Program Publications
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The search results on this publication page are automated on a monthly schedule based on acknowledgement of NIH Common Fund award numbers and intramural awards. Therefore, this list is not an exhaustive or error-free account of the program’s publications.
Title | Authors | Journal | PubMedID | Publication Date |
---|---|---|---|---|
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs. | Vochteloo, Martijn; Deelen, Patrick; Vink, Britt; BIOS Consortium; Tsai, Ellen A; Runz, Heiko; Andreu-Sánchez, Sergio; Fu, Jingyuan; Zhernakova, Alexandra; Westra, Harm-Jan; Franke, Lude | Genome biology | 38254182 | 2024 Jan 22 |
DNA methylation correlates of chronological age in diverse human tissue types. | Jain, Niyati; Li, James L; Tong, Lin; Jasmine, Farzana; Kibriya, Muhammad G; Demanelis, Kathryn; Oliva, Meritxell; Chen, Lin S; Pierce, Brandon L | Epigenetics & chromatin | 39118140 | 2024 Aug 08 |
The association of cigarette smoking with DNA methylation and gene expression in human tissue samples. | Li, James L; Jain, Niyati; Tamayo, Lizeth I; Tong, Lin; Jasmine, Farzana; Kibriya, Muhammad G; Demanelis, Kathryn; Oliva, Meritxell; Chen, Lin S; Pierce, Brandon L | American journal of human genetics | 38490207 | 2024 Apr 04 |
Quantification of population structure using correlated SNPs by shrinkage principal components. | Zou, Fei; Lee, Seunggeun; Knowles, Michael R; Wright, Fred A | Human heredity. | 20413978 | 2010; |
Toxicogenetics: population-based testing of drug and chemical safety in mouse models. | Rusyn, Ivan; Gatti, Daniel M; Wiltshire, Timothy; Wilshire, Timothy; Kleeberger, Steven R; Threadgill, David W | Pharmacogenomics | 20704464 | 2010 Aug |
Heading down the wrong pathway: on the influence of correlation within gene sets. | Gatti, Daniel M; Barry, William T; Nobel, Andrew B; Rusyn, Ivan; Wright, Fred A | BMC genomics | 20955544 | 2010 |
DiNAMIC: a method to identify recurrent DNA copy number aberrations in tumors. | Walter, Vonn; Nobel, Andrew B; Wright, Fred A | Bioinformatics (Oxford, England) | 21183584 | 2011 Mar 1 |
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. | Gamazon, Eric R; Nicolae, Dan L; Cox, Nancy J | PLoS genetics | 21304891 | 2011 |
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. | Small, Kerrin S; Hedman, Asa K; Grundberg, Elin; Nica, Alexandra C; Thorleifsson, Gudmar; Kong, Augustine; Thorsteindottir, Unnur; Shin, So-Youn; Richards, Hannah B; GIANT Consortium; MAGIC Investigators; DIAGRAM Consortium; Soranzo, Nicole; Ahmadi, Kourosh R; Lindgren, Cecilia M; Stefansson, Kari; Dermitzakis, Emmanouil T; Deloukas, Panos; Spector, Timothy D; McCarthy, Mark I; MuTHER Consortium | Nature genetics | 21572415 | 2011 Jun |
Copy number polymorphisms and anticancer pharmacogenomics. | Gamazon, Eric R; Huang, R Stephanie; Dolan, M Eileen; Cox, Nancy J | Genome biology | 21609475 | 2011 |
Phosphorylation of Spo0A by the histidine kinase KinD requires the lipoprotein med in Bacillus subtilis. | Banse, Allison V; Hobbs, Errett C; Losick, Richard | Journal of bacteriology | 21622736 | 2011 Aug |
Rare and common regulatory variation in population-scale sequenced human genomes. | Montgomery, Stephen B; Lappalainen, Tuuli; Gutierrez-Arcelus, Maria; Dermitzakis, Emmanouil T | PLoS genetics | 21811411 | 2011 Jul |
Estimation of alternative splicing variability in human populations. | Gonzalez-Porta, Mar; Calvo, Miquel; Sammeth, Michael; Guigo, Roderic | Genome research | 22113879 | 2012 Mar |
seeQTL: a searchable database for human eQTLs. | Xia, Kai; Shabalin, Andrey A; Huang, Shunping; Madar, Vered; Zhou, Yi-Hui; Wang, Wei; Zou, Fei; Sun, Wei; Sullivan, Patrick F; Wright, Fred A | Bioinformatics (Oxford, England) | 22171328 | 2012 Feb 1 |
Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. | Gamazon, E R; Badner, J A; Cheng, L; Zhang, C; Zhang, D; Cox, N J; Gershon, E S; Kelsoe, J R; Greenwood, T A; Nievergelt, C M; Chen, C; McKinney, R; Shilling, P D; Schork, N J; Smith, E N; Bloss, C S; Nurnberger, J I; Edenberg, H J; Foroud, T; Koller, D L | Molecular psychiatry | 22212596 | 2013 Mar |
Dissecting the regulatory architecture of gene expression QTLs. | Gaffney, Daniel J; Veyrieras, Jean-Baptiste; Degner, Jacob F; Pique-Regi, Roger; Pai, Athma A; Crawford, Gregory E; Stephens, Matthew; Gilad, Yoav; Pritchard, Jonathan K | Genome biology | 22293038 | 2012 |
Computational tools for discovery and interpretation of expression quantitative trait loci. | Wright, Fred A; Shabalin, Andrey A; Rusyn, Ivan | Pharmacogenomics | 22304583 | 2012 Feb |
DNaseýýýI sensitivity QTLs are a major determinant of human expression variation. | Degner, Jacob F; Pai, Athma A; Pique-Regi, Roger; Veyrieras, Jean-Baptiste; Gaffney, Daniel J; Pickrell, Joseph K; De Leon, Sherryl; Michelini, Katelyn; Lewellen, Noah; Crawford, Gregory E; Stephens, Matthew; Gilad, Yoav; Pritchard, Jonathan K | Nature | 22307276 | 2012 Feb 16 |
Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data. | Veyrieras, Jean-Baptiste; Gaffney, Daniel J; Pickrell, Joseph K; Gilad, Yoav; Stephens, Matthew; Pritchard, Jonathan K | PloS one | 22359548 | 2012 |
On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. | Im, Hae Kyung; Gamazon, Eric R; Nicolae, Dan L; Cox, Nancy J | American journal of human genetics | 22463877 | 2012 Apr 6 |
Matrix eQTL: ultra fast eQTL analysis via large matrix operations. | Shabalin, Andrey A | Bioinformatics (Oxford, England) | 22492648 | 2012 May 15 |
Reprioritizing genetic associations in hit regions using LASSO-based resample model averaging. | Valdar, William; Sabourin, Jeremy; Nobel, Andrew; Holmes, Christopher C | Genetic epidemiology | 22549815 | 2012 Jul |
Quantile-based permutation thresholds for quantitative trait loci hotspots. | Neto, Elias Chaibub; Keller, Mark P; Broman, Andrew F; Attie, Alan D; Jansen, Ritsert C; Broman, Karl W; Yandell, Brian S | Genetics | 22661325 | 2012 Aug |
Mapping cis- and trans-regulatory effects across multiple tissues in twins. | Grundberg, Elin; Small, Kerrin S; Hedman, Åsa K; Nica, Alexandra C; Buil, Alfonso; Keildson, Sarah; Bell, Jordana T; Yang, Tsun-Po; Meduri, Eshwar; Barrett, Amy; Nisbett, James; Sekowska, Magdalena; Wilk, Alicja; Shin, So-Youn; Glass, Daniel; Travers, Mary; Min, Josine L; Ring, Sue; Ho, Karen; Thorleifsson, Gudmar; Kong, Augustine; Thorsteindottir, Unnur; Ainali, Chrysanthi; Dimas, Antigone S; Hassanali, Neelam; Ingle, Catherine; Knowles, David; Krestyaninova, Maria; Lowe, Christopher E; Di Meglio, Paola; Montgomery, Stephen B; Parts, Leopold; Potter, Simon; Surdulescu, Gabriela; Tsaprouni, Loukia; Tsoka, Sophia; Bataille, Veronique; Durbin, Richard; Nestle, Frank O; O'Rahilly, Stephen; Soranzo, Nicole; Lindgren, Cecilia M; Zondervan, Krina T; Ahmadi, Kourosh R; Schadt, Eric E; Stefansson, Kari; Smith, George Davey; McCarthy, Mark I; Deloukas, Panos; Dermitzakis, Emmanouil T; Spector, Tim D; Multiple Tissue Human Expression Resource (MuTHER) Consortium | Nature genetics. | 22941192 | 2012 Oct; |
Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture? | Elbein, Steven C; Gamazon, Eric R; Das, Swapan K; Rasouli, Neda; Kern, Philip A; Cox, Nancy J | American journal of human genetics | 22958899 | 2012 Sep 7 |
Sex-biased genetic effects on gene regulation in humans. | Dimas, Antigone S; Nica, Alexandra C; Montgomery, Stephen B; Stranger, Barbara E; Raj, Towfique; Buil, Alfonso; Giger, Thomas; Lappalainen, Tuuli; Gutierrez-Arcelus, Maria; MuTHER Consortium; McCarthy, Mark I; Dermitzakis, Emmanouil T | Genome research | 22960374 | 2012 Dec |
The GEM mapper: fast, accurate and versatile alignment by filtration. | Marco-Sola, Santiago; Sammeth, Michael; Guigo, Roderic; Ribeca, Paolo | Nature methods | 23103880 | 2012 Dec |
Variants affecting exon skipping contribute to complex traits. | Lee, Younghee; Gamazon, Eric R; Rebman, Ellen; Lee, Yeunsook; Lee, Sanghyuk; Dolan, M Eileen; Cox, Nancy J; Lussier, Yves A | PLoS genetics | 23133393 | 2012 |
An exponential combination procedure for set-based association tests in sequencing studies. | Chen, Lin S; Hsu, Li; Gamazon, Eric R; Cox, Nancy J; Nicolae, Dan L | American journal of human genetics | 23159251 | 2012 Dec 7 |
Controls of nucleosome positioning in the human genome. | Gaffney, Daniel J; McVicker, Graham; Pai, Athma A; Fondufe-Mittendorf, Yvonne N; Lewellen, Noah; Michelini, Katelyn; Widom, Jonathan; Gilad, Yoav; Pritchard, Jonathan K | PLoS genetics | 23166509 | 2012 |
Integrative analysis of a cross-loci regulation network identifies App as a gene regulating insulin secretion from pancreatic islets. | Tu, Zhidong; Keller, Mark P; Zhang, Chunsheng; Rabaglia, Mary E; Greenawalt, Danielle M; Yang, Xia; Wang, I-Ming; Dai, Hongyue; Bruss, Matthew D; Lum, Pek Y; Zhou, Yun-Ping; Kemp, Daniel M; Kendziorski, Christina; Yandell, Brian S; Attie, Alan D; Schadt, Eric E; Zhu, Jun | PLoS genetics | 23236292 | 2012 |
Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. | Gamazon, Eric R; Pinto, Navin; Konkashbaev, Anuar; Im, Hae Kyung; Diskin, Sharon J; London, Wendy B; Maris, John M; Dolan, M Eileen; Cox, Nancy J; Cohn, Susan L | Journal of the National Cancer Institute | 23243203 | 2013 Feb 20 |
Modeling causality for pairs of phenotypes in system genetics. | Neto, Elias Chaibub; Broman, Aimee T; Keller, Mark P; Attie, Alan D; Zhang, Bin; Zhu, Jun; Yandell, Brian S | Genetics | 23288936 | 2013 Mar |
Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. | Lee, Younghee; Li, Haiquan; Li, Jianrong; Rebman, Ellen; Achour, Ikbel; Regan, Kelly E; Gamazon, Eric R; Chen, James L; Yang, Xinan Holly; Cox, Nancy J; Lussier, Yves A | Journal of the American Medical Informatics Association : JAMIA | 23355459 | 2013 Jul-Aug |
Transcriptome analyses of primitively eusocial wasps reveal novel insights into the evolution of sociality and the origin of alternative phenotypes. | Ferreira, Pedro G; Patalano, Solenn; Chauhan, Ritika; Ffrench-Constant, Richard; Gabaldón, Toni; Guigó, Roderic; Sumner, Seirian | Genome biology. | 23442883 | 2013; |
Marbled inflation from population structure in gene-based association studies with rare variants. | Liu, Qianying; Nicolae, Dan L; Chen, Lin S | Genetic epidemiology | 23468125 | 2013 Apr |
eQTL Mapping Using RNA-seq Data. | Sun, Wei; Hu, Yijuan | Statistics in biosciences | 23667399 | 2013 May 1 |
A statistical framework for joint eQTL analysis in multiple tissues. | Flutre, Timothee; Wen, Xiaoquan; Pritchard, Jonathan; Stephens, Matthew | PLoS genetics | 23671422 | 2013 May |
The Genotype-Tissue Expression (GTEx) project. | Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S, Hasz R, Walters G, Garcia F, Young N, Foster B, Moser M, Karasik E, Gillard B, Ramsey K, Sullivan S, Bridge J, Magazine H, Syron J, Fleming J, Siminoff L, Traino H, et al. | Nat Genet | 23715323 | 2013 May 29 |
JOINT AND INDIVIDUAL VARIATION EXPLAINED (JIVE) FOR INTEGRATED ANALYSIS OF MULTIPLE DATA TYPES. | Lock, Eric F; Hoadley, Katherine A; Marron, J S; Nobel, Andrew B | The annals of applied statistics | 23745156 | 2013 Mar 1 |
Validation of Monte Carlo estimates of three-class ideal observer operating points for normal data. | Edwards, Darrin C | Academic radiology | 23747155 | 2013 Jul |
Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. | Gamazon, Eric R; Huang, R Stephanie; Dolan, M Eileen; Cox, Nancy J; Im, Hae Kyung | Frontiers in genetics. | 23755062 | 2012; |
A genome-wide integrative study of microRNAs in human liver. | Gamazon, Eric R; Innocenti, Federico; Wei, Rongrong; Wang, Libo; Zhang, Min; Mirkov, Snezana; Ramirez, Jacqueline; Huang, R Stephanie; Cox, Nancy J; Ratain, Mark J; Liu, Wanqing | BMC genomics | 23758991 | 2013 |
DNase I-hypersensitive exons colocalize with promoters and distal regulatory elements. | Mercer, Tim R; Edwards, Stacey L; Clark, Michael B; Neph, Shane J; Wang, Hao; Stergachis, Andrew B; John, Sam; Sandstrom, Richard; Li, Guoliang; Sandhu, Kuljeet S; Ruan, Yijun; Nielsen, Lars K; Mattick, John S; Stamatoyannopoulos, John A | Nature genetics | 23793028 | 2013 Aug |
SCAN: a systems biology approach to pharmacogenomic discovery. | Gamazon, Eric R; Huang, R Stephanie; Cox, Nancy J | Methods in molecular biology (Clifton, N.J.) | 23824859 | 2013 |
Gene expression changes with age in skin, adipose tissue, blood and brain. | Glass, Daniel; Viñuela, Ana; Davies, Matthew N; Ramasamy, Adaikalavan; Parts, Leopold; Knowles, David; Brown, Andrew A; Hedman, Asa K; Small, Kerrin S; Buil, Alfonso; Grundberg, Elin; Nica, Alexandra C; Di Meglio, Paola; Nestle, Frank O; Ryten, Mina; UK Brain Expression consortium; MuTHER consortium; Durbin, Richard; McCarthy, Mark I; Deloukas, Panagiotis; Dermitzakis, Emmanouil T; Weale, Michael E; Bataille, Veronique; Spector, Tim D | Genome biology. | 23889843 | 2013; |
Efficiently identifying significant associations in genome-wide association studies. | Kostem, Emrah; Eskin, Eleazar | Journal of computational biology : a journal of computational molecular cell biology. | 24033261 | 2013 Oct; |
Transcriptome and genome sequencing uncovers functional variation in humans. | Lappalainen, Tuuli; Sammeth, Michael; Friedlander, Marc R; 't Hoen, Peter A C; Monlong, Jean; Rivas, Manuel A; Gonzalez-Porta, Mar; Kurbatova, Natalja; Griebel, Thasso; Ferreira, Pedro G; Barann, Matthias; Wieland, Thomas; Greger, Liliana; van Iterson, Ma | Nature | 24037378 | 2013 Sep 26 |
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. | 't Hoen, Peter A C; Friedlander, Marc R; Almlof, Jonas; Sammeth, Michael; Pulyakhina, Irina; Anvar, Seyed Yahya; Laros, Jeroen F J; Buermans, Henk P J; Karlberg, Olof; Brannvall, Mathias; GEUVADIS Consortium; den Dunnen, Johan T; van Ommen, Gert-Jan B; Gu | Nature biotechnology | 24037425 | 2013 Nov |
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. | Battle, Alexis; Mostafavi, Sara; Zhu, Xiaowei; Potash, James B; Weissman, Myrna M; McCormick, Courtney; Haudenschild, Christian D; Beckman, Kenneth B; Shi, Jianxin; Mei, Rui; Urban, Alexander E; Montgomery, Stephen B; Levinson, Douglas F; Koller, Daphne | Genome research | 24092820 | 2013 Nov 27 |
Reduced burden of very large and rare CNVs in bipolar affective disorder. | Grozeva, Detelina; Kirov, George; Conrad, Donald F; Barnes, Chris P; Hurles, Matthew; Owen, Michael J; O'Donovan, Michael C; Craddock, Nick | Bipolar disorders. | 24127788 | 2013 Dec; |
Quantitative allelic test-a fast test for very large association studies. | Lee, Sang Mee; Karrison, Theodore G; Cox, Nancy J; Im, Hae Kyung | Genetic epidemiology | 24185610 | 2013 Dec |
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. | Davis, Lea K; Yu, Dongmei; Keenan, Clare L; Gamazon, Eric R; Konkashbaev, Anuar I; Derks, Eske M; Neale, Benjamin M; Yang, Jian; Lee, S Hong; Evans, Patrick; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, Oscar J; Bloch | PLoS genetics | 24204291 | 2013 Oct |
Epigenome-wide differences in pathology-free regions of multiple sclerosis-affected brains. | Huynh, Jimmy L; Garg, Paras; Thin, Tin Htwe; Yoo, Seungyeul; Dutta, Ranjan; Trapp, Bruce D; Haroutunian, Vahram; Zhu, Jun; Donovan, Michael J; Sharp, Andrew J; Casaccia, Patrizia | Nature neuroscience | 24270187 | 2014 Jan |
Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing. | Mostafavi, S; Battle, A; Zhu, X; Potash, J B; Weissman, M M; Shi, J; Beckman, K; Haudenschild, C; McCormick, C; Mei, R; Gameroff, M J; Gindes, H; Adams, P; Goes, F S; Mondimore, F M; MacKinnon, D F; Notes, L; Schweizer, B; Furman, D; Montgomery, S B; Urban, A E; Koller, D; Levinson, D F | Molecular psychiatry. | 24296977 | 2014 Dec; |
RNA-Seq optimization with eQTL gold standards. | Ellis, Shannon E; Gupta, Simone; Ashar, Foram N; Bader, Joel S; West, Andrew B; Arking, Dan E | BMC genomics | 24341889 | 2013 |
Meta-analysis identifies gene-by-environment interactions as demonstrated in a study of 4,965 mice. | Kang, Eun Yong; Han, Buhm; Furlotte, Nicholas; Joo, Jong Wha J; Shih, Diana; Davis, Richard C; Lusis, Aldons J; Eskin, Eleazar | PLoS genetics | 24415945 | 2014 Jan |
A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. | Ahsan, Habibul; Halpern, Jerry; Kibriya, Muhammad G; Pierce, Brandon L; Tong, Lin; Gamazon, Eric; McGuire, Valerie; Felberg, Anna; Shi, Jianxin; Jasmine, Farzana; Roy, Shantanu; Brutus, Rachelle; Argos, Maria; Melkonian, Stephanie; Chang-Claude, Jenny; An | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 24493630 | 2014 Apr |
Obesity-associated variants within FTO form long-range functional connections with IRX3. | Smemo, Scott; Tena, Juan J; Kim, Kyoung-Han; Gamazon, Eric R; Sakabe, Noboru J; Gomez-Marin, Carlos; Aneas, Ivy; Credidio, Flavia L; Sobreira, Debora R; Wasserman, Nora F; Lee, Ju Hee; Puviindran, Vijitha; Tam, Davis; Shen, Michael; Son, Joe Eun; Vakili, | Nature | 24646999 | 2014 Mar 20 |
Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies. | Joo, Jong Wha J; Sul, Jae Hoon; Han, Buhm; Ye, Chun; Eskin, Eleazar | Genome biology | 24708878 | 2014 Apr 7 |
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. | Hart, Amy B; Gamazon, Eric R; Engelhardt, Barbara E; Sklar, Pamela; Kahler, Anna K; Hultman, Christina M; Sullivan, Patrick F; Neale, Benjamin M; Faraone, Stephen V; Psychiatric Genomics Consortium: ADHD Subgroup; de Wit, Harriet; Cox, Nancy J; Palmer, Ab | Proceedings of the National Academy of Sciences of the United States of America | 24711425 | 2014 Apr 22 |
Heritability and genomics of gene expression in peripheral blood. | Wright, Fred A; Sullivan, Patrick F; Brooks, Andrew I; Zou, Fei; Sun, Wei; Xia, Kai; Madar, Vered; Jansen, Rick; Chung, Wonil; Zhou, Yi-Hui; Abdellaoui, Abdel; Batista, Sandra; Butler, Casey; Chen, Guanhua; Chen, Ting-Huei; D'Ambrosio, David; Gallins, Pau | Nature genetics | 24728292 | 2014 May |
Validating single-cell genomics for the study of renal development. | Jain, Sanjay; Noordam, Michiel J; Hoshi, Masato; Vallania, Francesco L; Conrad, Donald F | Kidney international. | 24759149 | 2014 Nov; |
Guidelines for investigating causality of sequence variants in human disease. | MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; Shendure, J; Abecasis, G R; Adams, D R; Altman, R B; Antonarakis, S E; Ashley, E A; Barrett, J C; Biesecker, L G; Conrad, D F; Cooper, G M; Cox, N J; Daly, M J; Gerstein, M B; Goldstein, D B; Hirschhorn, J N; Leal, S M; Pennacchio, L A; Stamatoyannopoulos, J A; Sunyaev, S R; Valle, D; Voight, B F; Winckler, W; Gunter, C | Nature. | 24759409 | 2014 Apr 24; |
Determining causality and consequence of expression quantitative trait loci. | Battle, A; Montgomery, S B | Human genetics | 24770875 | 2014 Jun |
Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density. | Mesner, Larry D; Ray, Brianne; Hsu, Yi-Hsiang; Manichaikul, Ani; Lum, Eric; Bryda, Elizabeth C; Rich, Stephen S; Rosen, Clifford J; Criqui, Michael H; Allison, Matthew; Budoff, Matthew J; Clemens, Thomas L; Farber, Charles R | The Journal of clinical investigation | 24789909 | 2014 Jun 2 |
Poly-Omic Prediction of Complex Traits: OmicKriging. | Wheeler, Heather E; Aquino-Michaels, Keston; Gamazon, Eric R; Trubetskoy, Vassily V; Dolan, M Eileen; Huang, R Stephanie; Cox, Nancy J; Im, Hae Kyung | Genetic epidemiology | 24799323 | 2014 May 2 |
Partial correlation matrix estimation using ridge penalty followed by thresholding and re-estimation. | Ha, Min Jin; Sun, Wei | Biometrics | 24845967 | 2014 May 20 |
GWAS to Sequencing: Divergence in Study Design and Analysis. | King, Christopher Ryan; Nicolae, Dan L | Genes. | 24879455 | 2014; |
Allele-specific expression and eQTL analysis in mouse adipose tissue. | Hasin-Brumshtein, Yehudit; Hormozdiari, Farhad; Martin, Lisa; van Nas, Atila; Eskin, Eleazar; Lusis, Aldons J; Drake, Thomas A | BMC genomics | 24927774 | 2014 |
Accurate viral population assembly from ultra-deep sequencing data. | Mangul, Serghei; Wu, Nicholas C; Mancuso, Nicholas; Zelikovsky, Alex; Sun, Ren; Eskin, Eleazar | Bioinformatics (Oxford, England) | 24932001 | 2014 Jun 15 |
Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. | Zhang, Xiaoling; Gierman, Hinco J; Levy, Daniel; Plump, Andrew; Dobrin, Radu; Goring, Harald H H; Curran, Joanne E; Johnson, Matthew P; Blangero, John; Kim, Stuart K; O'Donnell, Christopher J; Emilsson, Valur; Johnson, Andrew D | BMC genomics. | 24973796 | 2014 Jun 27; |
Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13. | Tomlinson 4th, M Joseph; Pitsillides, Achilleas; Pickin, Rebecca; Mika, Matthew; Keene, Keith L; Hou, Xuanlin; Mychaleckyj, Josyf; Chen, Wei-Min; Concannon, Patrick; Onengut-Gumuscu, Suna | Diabetes. | 25008175 | 2014 Dec; |
Putative cis-regulatory drivers in colorectal cancer. | Ongen, Halit; Andersen, Claus L; Bramsen, Jesper B; Oster, Bodil; Rasmussen, Mads H; Ferreira, Pedro G; Sandoval, Juan; Vidal, Enrique; Whiffin, Nicola; Planchon, Alexandra; Padioleau, Ismael; Bielser, Deborah; Romano, Luciana; Tomlinson, Ian; Houlston, Richard S; Esteller, Manel; Orntoft, Torben F; Dermitzakis, Emmanouil T | Nature. | 25079323 | 2014 Aug 07; |
Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. | Narayanan, Manikandan; Huynh, Jimmy L; Wang, Kai; Yang, Xia; Yoo, Seungyeul; McElwee, Joshua; Zhang, Bin; Zhang, Chunsheng; Lamb, John R; Xie, Tao; Suver, Christine; Molony, Cliona; Melquist, Stacey; Johnson, Andrew D; Fan, Guoping; Stone, David J; Schadt | Molecular systems biology | 25080494 | 2014 |
Transcriptome assembly and quantification from Ion Torrent RNA-Seq data. | Mangul, Serghei; Caciula, Adrian; Al Seesi, Sahar; Brinza, Dumitru; M?ndoiu, Ion; Zelikovsky, Alex | BMC genomics. | 25082147 | 2014; |
Identifying causal variants at loci with multiple signals of association. | Hormozdiari, Farhad; Kostem, Emrah; Kang, Eun Yong; Pasaniuc, Bogdan; Eskin, Eleazar | Genetics. | 25104515 | 2014 Oct; |
Identification of genetic variants associated with alternative splicing using sQTLseekeR. | Monlong, Jean; Calvo, Miquel; Ferreira, Pedro G; Guigo, Roderic | Nature communications. | 25140736 | 2014; |
IRBIS: a systematic search for conserved complementarity. | Pervouchine, Dmitri D | RNA (New York, N.Y.). | 25142064 | 2014 Oct; |
Convergence of Sample Eigenvalues, Eigenvectors, and Principal Component Scores for Ultra-High Dimensional Data. | Lee, Seunggeun; Zou, Fei; Wright, Fred A | Biometrika | 25143634 | 2014 Jun |
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Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers. | Benitez-Buelga, Carlos; Vaclová, Tereza; Ferreira, Sofia; Urioste, Miguel; Inglada-Perez, Lucia; Soberón, Nora; Blasco, Maria A; Osorio, Ana; Benitez, Javier | Oncotarget. | 27015555 | 2016 May 03; |
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Functional Characterization of DNA Methylation in the Oligodendrocyte Lineage. | Moyon, Sarah; Huynh, Jimmy L; Dutta, Dipankar; Zhang, Fan; Ma, Dan; Yoo, Seungyeul; Lawrence, Rebecca; Wegner, Michael; John, Gareth R; Emery, Ben; Lubetzki, Catherine; Franklin, Robin J M; Fan, Guoping; Zhu, Jun; Dupree, Jeffrey L; Casaccia, Patrizia | Cell reports. | 27149841 | 2016 Apr 13; |
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A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus. | Li, Ming; Jaffe, Andrew E; Straub, Richard E; Tao, Ran; Shin, Joo Heon; Wang, Yanhong; Chen, Qiang; Li, Chao; Jia, Yankai; Ohi, Kazutaka; Maher, Brady J; Brandon, Nicholas J; Cross, Alan; Chenoweth, Joshua G; Hoeppner, Daniel J; Wei, Huijun; Hyde, Thomas M; McKay, Ronald; Kleinman, Joel E; Weinberger, Daniel R | Nature medicine. | 27158905 | 2016 06; |
Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder. | Peterson, Christine B; Service, Susan K; Jasinska, Anna J; Gao, Fuying; Zelaya, Ivette; Teshiba, Terri M; Bearden, Carrie E; Cantor, Rita M; Reus, Victor I; Macaya, Gabriel; López-Jaramillo, Carlos; Bogomolov, Marina; Benjamini, Yoav; Eskin, Eleazar; Coppola, Giovanni; Freimer, Nelson B; Sabatti, Chiara | PLoS genetics | 27176483 | 2016 05 |
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Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. | Wong, Sunnie Yan-Wai; Beamer, Lesa J; Gadomski, Therese; Honzik, Tomas; Mohamed, Miski; Wortmann, Saskia B; Brocke Holmefjord, Katja S; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Ackermann, Amanda; Stanley, Charles A; Rymen, Da | The Journal of pediatrics. | 27206562 | 2016 Aug; |
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Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation. | Tsai, Teresa; Veitinger, Sophie; Peek, Irina; Busse, Daniela; Eckardt, Josephine; Vladimirova, Dilyana; Jovancevic, Nikolina; Wojcik, Sebastian; Gisselmann, Günter; Altmüller, Janine; Ständer, Sonja; Luger, Thomas; Paus, Ralf; Cheret, Jeremy; Hatt, Hanns | Experimental dermatology. | 27315375 | 2017 01; |
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IL1RL1 asthma risk variants regulate airway type 2 inflammation. | Gordon, Erin D; Palandra, Joe; Wesolowska-Andersen, Agata; Ringel, Lando; Rios, Cydney L; Lachowicz-Scroggins, Marrah E; Sharp, Louis Z; Everman, Jamie L; MacLeod, Hannah J; Lee, Jae W; Mason, Robert J; Matthay, Michael A; Sheldon, Richard T; Peters, Mich | JCI insight. | 27699235 | 2016 Sep 08; |
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Discovering SNPs Regulating Human Gene Expression Using Allele Specific Expression from RNA-Seq Data. | Kang, Eun Yong; Martin, Lisa; Mangul, Serghei; Isvilanonda, Warin; Zou, Jennifer; Ben-David, Eyal; Han, Buhm; Lusis, Aldons J; Shifman, Sagiv; Eskin, Eleazar | Genetics. | 27765809 | 2016 Oct 07; |
Efficient and Accurate Multiple-Phenotype Regression Method for High Dimensional Data Considering Population Structure. | Joo, Jong Wha J; Kang, Eun Yong; Org, Elin; Furlotte, Nick; Parks, Brian; Hormozdiari, Farhad; Lusis, Aldons J; Eskin, Eleazar | Genetics. | 27770036 | 2016 Dec; |
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Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module. | Calabrese, Gina M; Mesner, Larry D; Stains, Joseph P; Tommasini, Steven M; Horowitz, Mark C; Rosen, Clifford J; Farber, Charles R | Cell systems. | 27866947 | 2017 Jan 25; |
Alpha-2 macroglobulin in Alzheimer's disease: a marker of neuronal injury through the RCAN1 pathway. | Varma, V R; Varma, S; An, Y; Hohman, T J; Seddighi, S; Casanova, R; Beri, A; Dammer, E B; Seyfried, N T; Pletnikova, O; Moghekar, A; Wilson, M R; Lah, J J; O'Brien, R J; Levey, A I; Troncoso, J C; Albert, M S; Thambisetty, M | Molecular psychiatry. | 27872486 | 2017 Jan; |
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Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicity. | Wheeler, Heather E; Gamazon, Eric R; Frisina, Robert; Perez-Cervantes, Carlos; El Charif, Omar; Mapes, Brandon; Fossa, Sophie D; Feldman, Darren; Hamilton, Robert; Vaughn, David J; Beard, Clair; Fung, Chunkit; Kollmannsberger, Christian; Kim, Jeri; Mushir | Clinical cancer research : an official journal of the American Association for Cancer Research. | 28039263 | 2016 Dec 30; |
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Blood pressure-associated polymorphism controls ARHGAP42 expression via serum response factor DNA binding. | Bai, Xue; Mangum, Kevin D; Dee, Rachel A; Stouffer, George A; Lee, Craig R; Oni-Orisan, Akinyemi; Patterson, Cam; Schisler, Jonathan C; Viera, Anthony J; Taylor, Joan M; Mack, Christopher P | The Journal of clinical investigation. | 28112683 | 2017 Feb 01; |
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Simultaneous Modeling of Disease Status and Clinical Phenotypes To Increase Power in Genome-Wide Association Studies. | Bilow, Michael; Crespo, Fernando; Pan, Zhicheng; Eskin, Eleazar; Eyheramendy, Susana | Genetics. | 28132020 | 2017 Mar; |
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice. | Carrat, Gaelle R; Hu, Ming; Nguyen-Tu, Marie-Sophie; Chabosseau, Pauline; Gaulton, Kyle J; van de Bunt, Martijn; Siddiq, Afshan; Falchi, Mario; Thurner, Matthias; Canouil, Mickaël; Pattou, Francois; Leclerc, Isabelle; Pullen, Timothy J; Cane, Matthew C; P | American journal of human genetics. | 28132686 | 2017 Feb 02; |
Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans. | Hernandez, W; Gamazon, E R; Aquino-Michaels, K; Smithberger, E; O'Brien, T J; Harralson, A F; Tuck, M; Barbour, A; Cavallari, L H; Perera, M A | Journal of thrombosis and haemostasis : JTH. | 28135054 | 2017 04; |
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The Relation Between Inflation in Type-I and Type-II Error Rate and Population Divergence in Genome-Wide Association Analysis of Multi-Ethnic Populations. | Derks, E M; Zwinderman, A H; Gamazon, E R | Behavior genetics. | 28185111 | 2017 May; |
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets. | Fort, Alexandre; Panousis, Nikolaos I; Garieri, Marco; Antonarakis, Stylianos E; Lappalainen, Tuuli; Dermitzakis, Emmanouil T; Delaneau, Olivier | Bioinformatics (Oxford, England). | 28186259 | 2017 Jun 15; |
A genome-wide association study yields five novel thyroid cancer risk loci. | Gudmundsson, Julius; Thorleifsson, Gudmar; Sigurdsson, Jon K; Stefansdottir, Lilja; Jonasson, Jon G; Gudjonsson, Sigurjon A; Gudbjartsson, Daniel F; Masson, Gisli; Johannsdottir, Hrefna; Halldorsson, Gisli H; Stacey, Simon N; Helgason, Hannes; Sulem, Patr | Nature communications. | 28195142 | 2017 Feb 14; |
Pathway-wide association study identifies five shared pathways associated with schizophrenia in three ancestral distinct populations. | Liu, C; Bousman, C A; Pantelis, C; Skafidas, E; Zhang, D; Yue, W; Everall, I P | Translational psychiatry. | 28221366 | 2017 Feb 21; |
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Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. | Kernohan, Kristin D; Frésard, Laure; Zappala, Zachary; Hartley, Taila; Smith, Kevin S; Wagner, Justin; Xu, Hongbin; McBride, Arran; Bourque, Pierre R; Consortium, Care Rare Canada; Bennett, Steffany A L; Dyment, David A; Boycott, Kym M; Montgomery, Stephen B; Warman Chardon, Jodi | Human mutation. | 28251733 | 2017 06; |
Scalable Design of Paired CRISPR Guide RNAs for Genomic Deletion. | Pulido-Quetglas, Carlos; Aparicio-Prat, Estel; Arnan, Carme; Polidori, Taisia; Hermoso, Toni; Palumbo, Emilio; Ponomarenko, Julia; Guigo, Roderic; Johnson, Rory | PLoS computational biology. | 28253259 | 2017 03; |
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. | Manning, Alisa (see original citation for additional authors) | Diabetes. | 28341696 | 2017 Jul; |
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Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci. | Pashos, Evanthia E; Park, YoSon; Wang, Xiao; Raghavan, Avanthi; Yang, Wenli; Abbey, Deepti; Peters, Derek T; Arbelaez, Juan; Hernandez, Mayda; Kuperwasser, Nicolas; Li, Wenjun; Lian, Zhaorui; Liu, Ying; Lv, Wenjian; Lytle-Gabbin, Stacey L; Marchadier, Dawn H; Rogov, Peter; Shi, Jianting; Slovik, Katherine J; Stylianou, Ioannis M; Wang, Li; Yan, Ruilan; Zhang, Xiaolan; Kathiresan, Sekar; Duncan, Stephen A; Mikkelsen, Tarjei S; Morrisey, Edward E; Rader, Daniel J; Brown, Christopher D; Musunuru, Kiran | Cell stem cell. | 28388432 | 2017 Apr 06; |
Population- and individual-specific regulatory variation in Sardinia. | Pala, Mauro; Zappala, Zachary; Marongiu, Mara; Li, Xin; Davis, Joe R; Cusano, Roberto; Crobu, Francesca; Kukurba, Kimberly R; Gloudemans, Michael J; Reinier, Frederic; Berutti, Riccardo; Piras, Maria G; Mulas, Antonella; Zoledziewska, Magdalena; Marongiu, | Nature genetics. | 28394350 | 2017 May; |
Reproducible RNA-seq analysis using recount2. | Collado-Torres, Leonardo; Nellore, Abhinav; Kammers, Kai; Ellis, Shannon E; Taub, Margaret A; Hansen, Kasper D; Jaffe, Andrew E; Langmead, Ben; Leek, Jeffrey T | Nature biotechnology. | 28398307 | 2017 04 11; |
veqtl-mapper: variance association mapping for molecular phenotypes. | Brown, Andrew Anand | Bioinformatics (Oxford, England). | 28449110 | 2017 Sep 01; |
Widespread Allelic Heterogeneity in Complex Traits. | Hormozdiari, Farhad; Zhu, Anthony; Kichaev, Gleb; Ju, Chelsea J-T; Segrè, Ayellet V; Joo, Jong Wha J; Won, Hyejung; Sankararaman, Sriram; Pasaniuc, Bogdan; Shifman, Sagiv; Eskin, Eleazar | American journal of human genetics. | 28475861 | 2017 May 04; |
Allele-specific expression reveals interactions between genetic variation and environment. | Knowles, David A; Davis, Joe R; Edgington, Hilary; Raj, Anil; Favé, Marie-Julie; Zhu, Xiaowei; Potash, James B; Weissman, Myrna M; Shi, Jianxin; Levinson, Douglas F; Awadalla, Philip; Mostafavi, Sara; Montgomery, Stephen B; Battle, Alexis | Nature methods. | 28530654 | 2017 Jul; |
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. | Yang, Bo; Zhou, Wei; Jiao, Jiao; Nielsen, Jonas B; Mathis, Michael R; Heydarpour, Mahyar; Lettre, Guillaume; Folkersen, Lasse; Prakash, Siddharth; Schurmann, Claudia; Fritsche, Lars; Farnum, Gregory A; Lin, Maoxuan; Othman, Mohammad; Hornsby, Whitney; Driscoll, Anisa; Levasseur, Alexandra; Thomas, Marc; Farhat, Linda; Dubé, Marie-Pierre; Isselbacher, Eric M; Franco-Cereceda, Anders; Guo, Dong-Chuan; Bottinger, Erwin P; Deeb, G Michael; Booher, Anna; Kheterpal, Sachin; Chen, Y Eugene; Kang, Hyun Min; Kitzman, Jacob; Cordell, Heather J; Keavney, Bernard D; Goodship, Judith A; Ganesh, Santhi K; Abecasis, Gonçalo; Eagle, Kim A; Boyle, Alan P; Loos, Ruth J F; Eriksson, Per; Tardif, Jean-Claude; Brummett, Chad M; Milewicz, Dianna M; Body, Simon C; Willer, Cristen J | Nature communications. | 28541271 | 2017 May 25; |
Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. | Dolan, M Eileen; El Charif, Omar; Wheeler, Heather E; Gamazon, Eric R; Ardeshir-Rouhani-Fard, Shirin; Monahan, Patrick; Feldman, Darren R; Hamilton, Robert J; Vaughn, David J; Beard, Clair J; Fung, Chunkit; Kim, Jeri; Fossa, Sophie D; Hertz, Daniel L; Mushiroda, Taisei; Kubo, Michiaki; Einhorn, Lawrence H; Cox, Nancy J; Travis, Lois B; Platinum Study Group | Clinical cancer research : an official journal of the American Association for Cancer Research. | 28611204 | 2017 Oct 01; |
The association between telomere length and mortality in Bangladesh. | Dean, Samantha G; Zhang, Chenan; Gao, Jianjun; Roy, Shantanu; Shinkle, Justin; Sabarinathan, Mekala; Argos, Maria; Tong, Lin; Ahmed, Alauddin; Islam, Md Tariqul; Islam, Tariqul; Rakibuz-Zaman, Muhammad; Sarwar, Golam; Shahriar, Hasan; Rahman, Mahfuzar; Yunus, Md; Graziano, Joseph H; Chen, Lin S; Jasmine, Farzana; Kibriya, Muhammad G; Ahsan, Habibul; Pierce, Brandon L | Aging. | 28630379 | 2017 Jun 15; |
Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues. | Zhang, Mingfeng; Lykke-Andersen, Soren; Zhu, Bin; Xiao, Wenming; Hoskins, Jason W; Zhang, Xijun; Rost, Lauren M; Collins, Irene; Bunt, Martijn van de; Jia, Jinping; Parikh, Hemang; Zhang, Tongwu; Song, Lei; Jermusyk, Ashley; Chung, Charles C; Zhu, Bin; Zhou, Weiyin; Matters, Gail L; Kurtz, Robert C; Yeager, Meredith; Jensen, Torben Heick; Brown, Kevin M; Ongen, Halit; Bamlet, William R; Murray, Bradley A; McCarthy, Mark I; Chanock, Stephen J; Chatterjee, Nilanjan; Wolpin, Brian M; Smith, Jill P; Olson, Sara H; Petersen, Gloria M; Shi, Jianxin; Amundadottir, Laufey | Gut. | 28634199 | 2017 Jun 20; |
Identifying global expression patterns and key regulators in epithelial to mesenchymal transition through multi-study integration. | Parsana, Princy; Amend, Sarah R; Hernandez, James; Pienta, Kenneth J; Battle, Alexis | BMC cancer. | 28651527 | 2017 Jun 26; |
Female Genomics: Infertility and Overall Health. | Joshi, Nikhil; Chan, Jessica L | Seminars in reproductive medicine. | 28658704 | 2017 05; |
How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility. | Nagirnaja, Liina; Vigh-Conrad, Katinka; Conrad, Donald F | Seminars in reproductive medicine. | 28658705 | 2017 05; |
10 Years of GWAS Discovery: Biology, Function, and Translation. | Visscher, Peter M; Wray, Naomi R; Zhang, Qian; Sklar, Pamela; McCarthy, Mark I; Brown, Matthew A; Yang, Jian | American journal of human genetics. | 28686856 | 2017 Jul 06; |
A Standardized Approach for Multispecies Purification of Mammalian Male Germ Cells by Mechanical Tissue Dissociation and Flow Cytometry. | Lima, Ana C; Jung, Min; Rusch, Jannette; Usmani, Abul; Lopes, Alexandra M; Conrad, Donald F | Journal of visualized experiments : JoVE. | 28745623 | 2017 07 12; |
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. | Mercader, Josep M; Liao, Rachel G; Bell, Avery D; Dymek, Zachary; Estrada, Karol; Tukiainen, Taru; Huerta-Chagoya, Alicia; Moreno-Macías, Hortensia; Jablonski, Kathleen A; Hanson, Robert L; Walford, Geoffrey A; Moran, Ignasi; Chen, Ling; Agarwala, Vineeta; Ordoñez-Sánchez, María Luisa; Rodríguez-Guillen, Rosario; Rodríguez-Torres, Maribel; Segura-Kato, Yayoi; García-Ortiz, Humberto; Centeno-Cruz, Federico; Barajas-Olmos, Francisco; Caulkins, Lizz; Puppala, Sobha; Fontanillas, Pierre; Williams, Amy L; Bonàs-Guarch, Sílvia; Hartl, Chris; Ripke, Stephan; Diabetes Prevention Program Research Group; Tooley, Katherine; Lane, Jacqueline; Zerrweck, Carlos; Martínez-Hernández, Angélica; Córdova, Emilio J; Mendoza-Caamal, Elvia; Contreras-Cubas, Cecilia; González-Villalpando, María E; Cruz-Bautista, Ivette; Muñoz-Hernández, Liliana; Gómez-Velasco, Donaji; Alvirde, Ulises; Henderson, Brian E; Wilkens, Lynne R; Le Marchand, Loic; Arellano-Campos, Olimpia; Riba, Laura; Harden, Maegan; Broad Genomics Platform; Gabriel, Stacey; T2D-GENES Consortium; Abboud, Hanna E; Cortes, Maria L; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio; Soberon, Xavier; Curran, Joanne E; Jenkinson, Christopher P; DeFronzo, Ralph A; Lehman, Donna M; Hanis, Craig L; Bell, Graeme I; Boehnke, Michael; Blangero, John; Duggirala, Ravindranath; Saxena, Richa; MacArthur, Daniel; Ferrer, Jorge; McCarroll, Steven A; Torrents, David; Knowler, William C; Baier, Leslie J; Burtt, Noel; González-Villalpando, Clicerio; Haiman, Christopher A; Aguilar-Salinas, Carlos A; Tusié-Luna, Teresa; Flannick, Jason; Jacobs, Suzanne B R; Orozco, Lorena; Altshuler, David; Florez, Jose C; SIGMA T2D Genetics Consortium | Diabetes. | 28838971 | 2017 11; |
Eigenvalue significance testing for genetic association. | Zhou, Yi-Hui; Marron, J S; Wright, Fred A | Biometrics. | 28853138 | 2018 06; |
Transposable elements are the primary source of novelty in primate gene regulation. | Trizzino, Marco; Park, YoSon; Holsbach-Beltrame, Marcia; Aracena, Katherine; Mika, Katelyn; Caliskan, Minal; Perry, George H; Lynch, Vincent J; Brown, Christopher D | Genome research. | 28855262 | 2017 10; |
Applying meta-analysis to genotype-tissue expression data from multiple tissues to identify eQTLs and increase the number of eGenes. | Duong, Dat; Gai, Lisa; Snir, Sagi; Kang, Eun Yong; Han, Buhm; Sul, Jae Hoon; Eskin, Eleazar | Bioinformatics (Oxford, England). | 28881962 | 2017 Jul 15; |
A genome-wide association study of LCH identifies a variant inSMAD6associated with susceptibility. | Peckham-Gregory, Erin C; Chakraborty, Rikhia; Scheurer, Michael E; Belmont, John W; Abhyankar, Harshal; Sengal, Amel G; Scull, Brooks P; Eckstein, Olive; Zinn, Daniel J; Mayer, Louisa; Shih, Albert; Merad, Miriam; Parsons, D Williams; McClain, Kenneth L; Lupo, Philip J; Allen, Carl E | Blood. | 28935696 | 2017 11 16; |
Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions. | Ritchie, Marylyn D; Davis, Joe R; Aschard, Hugues; Battle, Alexis; Conti, David; Du, Mengmeng; Eskin, Eleazar; Fallin, M Daniele; Hsu, Li; Kraft, Peter; Moore, Jason H; Pierce, Brandon L; Bien, Stephanie A; Thomas, Duncan C; Wei, Peng; Montgomery, Stephen B | American journal of epidemiology. | 28978191 | 2017 Oct 01; |
Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. | McAllister, Kimberly; Mechanic, Leah E; Amos, Christopher; Aschard, Hugues; Blair, Ian A; Chatterjee, Nilanjan; Conti, David; Gauderman, W James; Hsu, Li; Hutter, Carolyn M; Jankowska, Marta M; Kerr, Jacqueline; Kraft, Peter; Montgomery, Stephen B; Mukherjee, Bhramar; Papanicolaou, George J; Patel, Chirag J; Ritchie, Marylyn D; Ritz, Beate R; Thomas, Duncan C; Wei, Peng; Witte, John S | American journal of epidemiology. | 28978193 | 2017 Oct 01; |
Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease. | eGTEx Project | Nature genetics. | 29019975 | 2017 Dec; |
Co-expression networks reveal the tissue-specific regulation of transcription and splicing. | Saha, Ashis; Kim, Yungil; Gewirtz, Ariel D H; Jo, Brian; Gao, Chuan; McDowell, Ian C; GTEx Consortium; Engelhardt, Barbara E; Battle, Alexis | Genome research. | 29021288 | 2017 Nov; |
Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change. | Mohammadi, Pejman; Castel, Stephane E; Brown, Andrew A; Lappalainen, Tuuli | Genome research. | 29021289 | 2017 Nov; |
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis. | Yang, Fan; Wang, Jiebiao; GTEx Consortium; Pierce, Brandon L; Chen, Lin S | Genome research. | 29021290 | 2017 Nov; |
The impact of rare variation on gene expression across tissues. | Li, Xin; Kim, Yungil; Tsang, Emily K; Davis, Joe R; Damani, Farhan N; Chiang, Colby; Hess, Gaelen T; Zappala, Zachary; Strober, Benjamin J; Scott, Alexandra J; Li, Amy; Ganna, Andrea; Bassik, Michael C; Merker, Jason D; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)?Analysis Working Group; Statistical Methods groups?Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site?NDRI; Biospecimen Collection Source Site?RPCI; Biospecimen Core Resource?VARI; Brain Bank Repository?University of Miami Brain Endowment Bank; Leidos Biomedical?Project Management; ELSI Study; Genome Browser Data Integration &Visualization?EBI; Genome Browser Data Integration &Visualization?UCSC Genomics Institute, University of California Santa Cruz; Hall, Ira M; Battle, Alexis; Montgomery, Stephen B | Nature. | 29022581 | 2017 10 11; |
Dynamic landscape and regulation of RNA editing in mammals. | Tan, Meng How; Li, Qin; Shanmugam, Raghuvaran; Piskol, Robert; Kohler, Jennefer; Young, Amy N; Liu, Kaiwen Ivy; Zhang, Rui; Ramaswami, Gokul; Ariyoshi, Kentaro; Gupte, Ankita; Keegan, Liam P; George, Cyril X; Ramu, Avinash; Huang, Ni; Pollina, Elizabeth A; Leeman, Dena S; Rustighi, Alessandra; Goh, Y P Sharon; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)?Analysis Working Group; Statistical Methods groups?Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site?NDRI; Biospecimen Collection Source Site?RPCI; Biospecimen Core Resource?VARI; Brain Bank Repository?University of Miami Brain Endowment Bank; Leidos Biomedical?Project Management; ELSI Study; Genome Browser Data Integration &Visualization?EBI; Genome Browser Data Integration &Visualization?UCSC Genomics Institute, University of California Santa Cruz; Chawla, Ajay; Del Sal, Giannino; Peltz, Gary; Brunet, Anne; Conrad, Donald F; Samuel, Charles E; O'Connell, Mary A; Walkley, Carl R; Nishikura, Kazuko; Li, Jin Billy | Nature. | 29022589 | 2017 Oct 11; |
Genetic effects on gene expression across human tissues. | GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)?Analysis Working Group; Statistical Methods groups?Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site?NDRI; Biospecimen Collection Source Site?RPCI; Biospecimen Core Resource?VARI; Brain Bank Repository?University of Miami Brain Endowment Bank; Leidos Biomedical?Project Management; ELSI Study; Genome Browser Data Integration &Visualization?EBI; Genome Browser Data Integration &Visualization?UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle, Alexis; Brown, Christopher D; Engelhardt, Barbara E; Montgomery, Stephen B | Nature. | 29022597 | 2017 Oct 11; |
Landscape of X chromosome inactivation across human tissues. | Tukiainen, Taru; Villani, Alexandra-Chloé; Yen, Angela; Rivas, Manuel A; Marshall, Jamie L; Satija, Rahul; Aguirre, Matt; Gauthier, Laura; Fleharty, Mark; Kirby, Andrew; Cummings, Beryl B; Castel, Stephane E; Karczewski, Konrad J; Aguet, François; Byrnes, Andrea; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)?Analysis Working Group; Statistical Methods groups?Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site?NDRI; Biospecimen Collection Source Site?RPCI; Biospecimen Core Resource?VARI; Brain Bank Repository?University of Miami Brain Endowment Bank; Leidos Biomedical?Project Management; ELSI Study; Genome Browser Data Integration &Visualization?EBI; Genome Browser Data Integration &Visualization?UCSC Genomics Institute, University of California Santa Cruz; Lappalainen, Tuuli; Regev, Aviv; Ardlie, Kristin G; Hacohen, Nir; MacArthur, Daniel G | Nature. | 29022598 | 2017 Oct 11; |
An empirical Bayes approach for multiple tissue eQTL analysis. | Li, Gen; Shabalin, Andrey A; Rusyn, Ivan; Wright, Fred A; Nobel, Andrew B | Biostatistics (Oxford, England). | 29029013 | 2017 Sep 25; |
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. | Gallagher, Michael D; Posavi, Marijan; Huang, Peng; Unger, Travis L; Berlyand, Yosef; Gruenewald, Analise L; Chesi, Alessandra; Manduchi, Elisabetta; Wells, Andrew D; Grant, Struan F A; Blobel, Gerd A; Brown, Christopher D; Chen-Plotkin, Alice S | American journal of human genetics. | 29056226 | 2017 Nov 02; |
Bayesian Partition Models for Identifying Expression Quantitative Trait Loci. | Jiang, Bo; Liu, Jun S | Journal of the American Statistical Association. | 29056798 | 2015; |
Evidence of reduced recombination rate in human regulatory domains. | Liu, Yaping; Sarkar, Abhishek; Kheradpour, Pouya; Ernst, Jason; Kellis, Manolis | Genome biology. | 29058599 | 2017 Oct 20; |
Estimation of cis-eQTL effect sizes using a log of linear model. | Palowitch, John; Shabalin, Andrey; Zhou, Yi-Hui; Nobel, Andrew B; Wright, Fred A | Biometrics. | 29073327 | 2017 Oct 26; |
Genetic variation and gene expression across multiple tissues and developmental stages in a nonhuman primate. | Jasinska, Anna J; Zelaya, Ivette; Service, Susan K; Peterson, Christine B; Cantor, Rita M; Choi, Oi-Wa; DeYoung, Joseph; Eskin, Eleazar; Fairbanks, Lynn A; Fears, Scott; Furterer, Allison E; Huang, Yu S; Ramensky, Vasily; Schmitt, Christopher A; Svardal, Hannes; Jorgensen, Matthew J; Kaplan, Jay R; Villar, Diego; Aken, Bronwen L; Flicek, Paul; Nag, Rishi; Wong, Emily S; Blangero, John; Dyer, Thomas D; Bogomolov, Marina; Benjamini, Yoav; Weinstock, George M; Dewar, Ken; Sabatti, Chiara; Wilson, Richard K; Jentsch, J David; Warren, Wesley; Coppola, Giovanni; Woods, Roger P; Freimer, Nelson B | Nature genetics. | 29083405 | 2017 Dec; |
High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing. | Lagarde, Julien; Uszczynska-Ratajczak, Barbara; Carbonell, Silvia; Pérez-Lluch, Sílvia; Abad, Amaya; Davis, Carrie; Gingeras, Thomas R; Frankish, Adam; Harrow, Jennifer; Guigo, Roderic; Johnson, Rory | Nature genetics. | 29106417 | 2017 Dec; |
Genome-wide association study identifies a novel locus for cannabis dependence. | Agrawal, A; Chou, Y-L; Carey, C E; Baranger, D A A; Zhang, B; Sherva, R; Wetherill, L; Kapoor, M; Wang, J-C; Bertelsen, S; Anokhin, A P; Hesselbrock, V; Kramer, J; Lynskey, M T; Meyers, J L; Nurnberger, J I; Rice, J P; Tischfield, J; Bierut, L J; Degenhardt, L; Farrer, L A; Gelernter, J; Hariri, A R; Heath, A C; Kranzler, H R; Madden, P A F; Martin, N G; Montgomery, G W; Porjesz, B; Wang, T; Whitfield, J B; Edenberg, H J; Foroud, T; Goate, A M; Bogdan, R; Nelson, E C | Molecular psychiatry. | 29112194 | 2017 Nov 07; |
Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal. | Delgado, Dayana A; Zhang, Chenan; Chen, Lin S; Gao, Jianjun; Roy, Shantanu; Shinkle, Justin; Sabarinathan, Mekala; Argos, Maria; Tong, Lin; Ahmed, Alauddin; Islam, Tariqul; Rakibuz-Zaman, Muhammad; Sarwar, Golam; Shahriar, Hasan; Rahman, Mahfuzar; Yunus, Mohammad; Jasmine, Farzana; Kibriya, Muhammad G; Ahsan, Habibul; Pierce, Brandon L | Journal of medical genetics. | 29151059 | 2018 Jan; |
Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans. | Gottlieb, Assaf; Daneshjou, Roxana; DeGorter, Marianne; Bourgeois, Stephane; Svensson, Peter J; Wadelius, Mia; Deloukas, Panos; Montgomery, Stephen B; Altman, Russ B | Genome medicine. | 29178968 | 2017 Nov 24; |
Impact of regulatory variation across human iPSCs and differentiated cells. | Banovich, Nicholas E; Li, Yang I; Raj, Anil; Ward, Michelle C; Greenside, Peyton; Calderon, Diego; Tung, Po Yuan; Burnett, Jonathan E; Myrthil, Marsha; Thomas, Samantha M; Burrows, Courtney K; Romero, Irene Gallego; Pavlovic, Bryan J; Kundaje, Anshul; Pritchard, Jonathan K; Gilad, Yoav | Genome research. | 29208628 | 2018 01; |
Erratum: Genetic effects on gene expression across human tissues. | GTEx Consortium | Nature | 29258290 | 2018 Jan 25 |
Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex. | Clay-Gilmour, Alyssa I; Hahn, Theresa; Preus, Leah M; Onel, Kenan; Skol, Andrew; Hungate, Eric; Zhu, Qianqian; Haiman, Christopher A; Stram, Daniel O; Pooler, Loreall; Sheng, Xin; Yan, Li; Liu, Qian; Hu, Qiang; Liu, Song; Battaglia, Sebastiano; Zhu, Xiaochun; Block, AnneMarie W; Sait, Sheila N J; Karaesmen, Ezgi; Rizvi, Abbas; Weisdorf, Daniel J; Ambrosone, Christine B; Tritchler, David; Ellinghaus, Eva; Ellinghaus, David; Stanulla, Martin; Clavel, Jacqueline; Orsi, Laurent; Spellman, Stephen; Pasquini, Marcelo C; McCarthy, Philip L; Sucheston-Campbell, Lara E | Blood advances. | 29296818 | 2017 Sep 12; |
Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma. | Gamazon, Eric R; Trendowski, Matthew R; Wen, Yujia; Wing, Claudia; Delaney, Shannon M; Huh, Won; Wong, Shan; Cox, Nancy J; Dolan, M Eileen | Scientific reports. | 29335598 | 2018 Jan 15; |
N6-methyladenosine RNA modification regulates embryonic neural stem cell self-renewal through histone modifications. | Wang, Yang; Li, Yue; Yue, Minghui; Wang, Jun; Kumar, Sandeep; Wechsler-Reya, Robert J; Zhang, Zhaolei; Ogawa, Yuya; Kellis, Manolis; Duester, Gregg; Zhao, Jing Crystal | Nature neuroscience. | 29335608 | 2018 02; |
Clustering gene expression time series data using an infinite Gaussian process mixture model. | McDowell, Ian C; Manandhar, Dinesh; Vockley, Christopher M; Schmid, Amy K; Reddy, Timothy E; Engelhardt, Barbara E | PLoS computational biology. | 29337990 | 2018 01; |
Genetic variation in theNEIL2DNA glycosylase gene is associated with oxidative DNA damage inBRCA2mutation carriers. | Benítez-Buelga, Carlos; Baquero, Juan Miguel; Vaclova, Tereza; Fernández, Victoria; Martín, Paloma; Inglada-Perez, Lucia; Urioste, Miguel; Osorio, Ana; Benítez, Javier | Oncotarget. | 29383107 | 2017 Dec 29; |
Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8. | McElroy, Susan L; Winham, Stacey J; Cuellar-Barboza, Alfredo B; Colby, Colin L; Ho, Ada Man-Choi; Sicotte, Hugues; Larrabee, Beth R; Crow, Scott; Frye, Mark A; Biernacka, Joanna M | Translational psychiatry. | 29391396 | 2018 Feb 02; |
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci. | Thurner, Matthias; van de Bunt, Martijn; Torres, Jason M; Mahajan, Anubha; Nylander, Vibe; Bennett, Amanda J; Gaulton, Kyle J; Barrett, Amy; Burrows, Carla; Bell, Christopher G; Lowe, Robert; Beck, Stephan; Rakyan, Vardhman K; Gloyn, Anna L; McCarthy, Mark I | eLife. | 29412141 | 2018 02 07; |
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. | Ferreira, Pedro G; Muñoz-Aguirre, Manuel; Reverter, Ferran; Sá Godinho, Caio P; Sousa, Abel; Amadoz, Alicia; Sodaei, Reza; Hidalgo, Marta R; Pervouchine, Dmitri; Carbonell-Caballero, Jose; Nurtdinov, Ramil; Breschi, Alessandra; Amador, Raziel; Oliveira, Patrícia; Çubuk, Cankut; Curado, João; Aguet, François; Oliveira, Carla; Dopazo, Joaquin; Sammeth, Michael; Ardlie, Kristin G; Guigó, Roderic | Nature communications. | 29440659 | 2018 02 13; |
HT-eQTL: integrative expression quantitative trait loci analysis in a large number of human tissues. | Li, Gen; Jima, Dereje; Wright, Fred A; Nobel, Andrew B | BMC bioinformatics. | 29523079 | 2018 03 09; |
A novel pooled-sample multiplex luminex assay for high-throughput measurement of relative telomere length. | Jasmine, Farzana; Shinkle, Justin; Sabarinathan, Mekala; Ahsan, Habibul; Pierce, Brandon L; Kibriya, Muhammad G | American journal of human biology : the official journal of the Human Biology Council. | 29527774 | 2018 Mar 12; |
ROP: dumpster diving in RNA-sequencing to find the source of 1 trillion reads across diverse adult human tissues. | Mangul, Serghei; Yang, Harry Taegyun; Strauli, Nicolas; Gruhl, Franziska; Porath, Hagit T; Hsieh, Kevin; Chen, Linus; Daley, Timothy; Christenson, Stephanie; Wesolowska-Andersen, Agata; Spreafico, Roberto; Rios, Cydney; Eng, Celeste; Smith, Andrew D; Hernandez, Ryan D; Ophoff, Roel A; Santana, Jose Rodriguez; Levanon, Erez Y; Woodruff, Prescott G; Burchard, Esteban; Seibold, Max A; Shifman, Sagiv; Eskin, Eleazar; Zaitlen, Noah | Genome biology. | 29548336 | 2018 Feb 15; |
A study of telomere length, arsenic exposure, and arsenic toxicity in a Bangladeshi cohort. | Zhang, Chenan; Kibriya, Muhammad G; Jasmine, Farzana; Roy, Shantanu; Gao, Jianjun; Sabarinathan, Mekala; Shinkle, Justin; Delgado, Dayana; Ahmed, Alauddin; Islam, Tariqul; Eunus, Mahbubul; Islam, Md Tariqul; Hasan, Rabiul; Graziano, Joseph H; Ahsan, Habibul; Pierce, Brandon L | Environmental research. | 29567420 | 2018 07; |
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Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data. | Deutelmoser, Heike; Scherer, Dominique; Brenner, Hermann; Waldenberger, Melanie; INTERVAL study; Suhre, Karsten; Kastenmüller, Gabi; Lorenzo Bermejo, Justo | Briefings in bioinformatics | 33063116 | 2021 Jul 20 |
RobNorm: model-based robust normalization method for labeled quantitative mass spectrometry proteomics data. | Wang, Meng; Jiang, Lihua; Jian, Ruiqi; Chan, Joanne Y; Liu, Qing; Snyder, Michael P; Tang, Hua | Bioinformatics (Oxford, England) | 33098413 | 2021 May 05 |
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. | Lagou, Vasiliki; Mägi, Reedik; Hottenga, Jouke- Jan; Grallert, Harald; Perry, John R B; Bouatia-Naji, Nabila; Marullo, Letizia; Rybin, Denis; Jansen, Rick; Min, Josine L; Dimas, Antigone S; Ulrich, Anna; Zudina, Liudmila; Gådin, Jesper R; Jiang, Longda; Faggian, Alessia; Bonnefond, Amélie; Fadista, Joao; Stathopoulou, Maria G; Isaacs, Aaron; Willems, Sara M; Navarro, Pau; Tanaka, Toshiko; Jackson, Anne U; Montasser, May E; O'Connell, Jeff R; Bielak, Lawrence F; Webster, Rebecca J; Saxena, Richa; Stafford, Jeanette M; Pourcain, Beate St; Timpson, Nicholas J; Salo, Perttu; Shin, So-Youn; Amin, Najaf; Smith, Albert V; Li, Guo; Verweij, Niek; Goel, Anuj; Ford, Ian; Johnson, Paul C D; Johnson, Toby; Kapur, Karen; Thorleifsson, Gudmar; Strawbridge, Rona J; Rasmussen-Torvik, Laura J; Esko, Tõnu; Mihailov, Evelin; Fall, Tove; Fraser, Ross M; Mahajan, Anubha; Kanoni, Stavroula; Giedraitis, Vilmantas; Kleber, Marcus E; Silbernagel, Günther; Meyer, Julia; Müller-Nurasyid, Martina; Ganna, Andrea; Sarin, Antti-Pekka; Yengo, Loic; Shungin, Dmitry; Luan, Jian'an; Horikoshi, Momoko; An, Ping; Sanna, Serena; Boettcher, Yvonne; Rayner, N William; Nolte, Ilja M; Zemunik, Tatijana; Iperen, Erik van; Kovacs, Peter; Hastie, Nicholas D; Wild, Sarah H; McLachlan, Stela; Campbell, Susan; Polasek, Ozren; Carlson, Olga; Egan, Josephine; Kiess, Wieland; Willemsen, Gonneke; Kuusisto, Johanna; Laakso, Markku; Dimitriou, Maria; Hicks, Andrew A; Rauramaa, Rainer; Bandinelli, Stefania; Thorand, Barbara; Liu, Yongmei; Miljkovic, Iva; Lind, Lars; Doney, Alex; Perola, Markus; Hingorani, Aroon; Kivimaki, Mika; Kumari, Meena; Bennett, Amanda J; Groves, Christopher J; Herder, Christian; Koistinen, Heikki A; Kinnunen, Leena; Faire, Ulf de; Bakker, Stephan J L; Uusitupa, Matti; Palmer, Colin N A; Jukema, J Wouter; Sattar, Naveed; Pouta, Anneli; Snieder, Harold; Boerwinkle, Eric; Pankow, James S; Magnusson, Patrik K; Krus, Ulrika; Scapoli, Chiara; de Geus, Eco J C N; Blüher, Matthias; Wolffenbuttel, Bruce H R; Province, Michael A; Abecasis, Goncalo R; Meigs, James B; Hovingh, G Kees; Lindström, Jaana; Wilson, James F; Wright, Alan F; Dedoussis, George V; Bornstein, Stefan R; Schwarz, Peter E H; Tönjes, Anke; Winkelmann, Bernhard R; Boehm, Bernhard O; März, Winfried; Metspalu, Andres; Price, Jackie F; Deloukas, Panos; Körner, Antje; Lakka, Timo A; Keinanen-Kiukaanniemi, Sirkka M; Saaristo, Timo E; Bergman, Richard N; Tuomilehto, Jaakko; Wareham, Nicholas J; Langenberg, Claudia; Männistö, Satu; Franks, Paul W; Hayward, Caroline; Vitart, Veronique; Kaprio, Jaakko; Visvikis-Siest, Sophie; Balkau, Beverley; Altshuler, David; Rudan, Igor; Stumvoll, Michael; Campbell, Harry; van Duijn, Cornelia M; Gieger, Christian; Illig, Thomas; Ferrucci, Luigi; Pedersen, Nancy L; Pramstaller, Peter P; Boehnke, Michael; Frayling, Timothy M; Shuldiner, Alan R; Peyser, Patricia A; Kardia, Sharon L R; Palmer, Lyle J; Penninx, Brenda W; Meneton, Pierre; Harris, Tamara B; Navis, Gerjan; Harst, Pim van der; Smith, George Davey; Forouhi, Nita G; Loos, Ruth J F; Salomaa, Veikko; Soranzo, Nicole; Boomsma, Dorret I; Groop, Leif; Tuomi, Tiinamaija; Hofman, Albert; Munroe, Patricia B; Gudnason, Vilmundur; Siscovick, David S; Watkins, Hugh; Lecoeur, Cecile; Vollenweider, Peter; Franco-Cereceda, Anders; Eriksson, Per; Jarvelin, Marjo-Riitta; Stefansson, Kari; Hamsten, Anders; Nicholson, George; Karpe, Fredrik; Dermitzakis, Emmanouil T; Lindgren, Cecilia M; McCarthy, Mark I; Froguel, Philippe; Kaakinen, Marika A; Lyssenko, Valeriya; Watanabe, Richard M; Ingelsson, Erik; Florez, Jose C; Dupuis, Josée; Barroso, Inês; Morris, Andrew P; Prokopenko, Inga; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) | Nature communications | 33402679 | 2021 01 05 |
Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles. | Magri, Chiara; Giacopuzzi, Edoardo; Sacco, Chiara; Bocchio-Chiavetto, Luisella; Minelli, Alessandra; Gennarelli, Massimo | Scientific reports | 33436853 | 2021 01 12 |
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. | Barbeira, Alvaro N; Bonazzola, Rodrigo; Gamazon, Eric R; Liang, Yanyu; Park, YoSon; Kim-Hellmuth, Sarah; Wang, Gao; Jiang, Zhuoxun; Zhou, Dan; Hormozdiari, Farhad; Liu, Boxiang; Rao, Abhiram; Hamel, Andrew R; Pividori, Milton D; Aguet, François; GTEx GWAS | Genome biology | 33499903 | 2021 01 26 |
Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome. | Garrido-Martín, Diego; Borsari, Beatrice; Calvo, Miquel; Reverter, Ferran; Guigó, Roderic | Nature communications | 33526779 | 2021 02 01 |
Regulatory genomic circuitry of human disease loci by integrative epigenomics. | Boix, Carles A; James, Benjamin T; Park, Yongjin P; Meuleman, Wouter; Kellis, Manolis | Nature | 33536621 | 2021 02 |
Day-night and seasonal variation of human gene expression across tissues. | Wucher, Valentin; Sodaei, Reza; Amador, Raziel; Irimia, Manuel; Guigó, Roderic | bioRxiv : the preprint server for biology | 33688644 | 2021 Mar 01 |
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. | de Goede, Olivia M; Nachun, Daniel C; Ferraro, Nicole M; Gloudemans, Michael J; Rao, Abhiram S; Smail, Craig; Eulalio, Tiffany Y; Aguet, François; Ng, Bernard; Xu, Jishu; Barbeira, Alvaro N; Castel, Stephane E; Kim-Hellmuth, Sarah; Park, YoSon; Scott, Alexandra J; Strober, Benjamin J; GTEx Consortium; Brown, Christopher D; Wen, Xiaoquan; Hall, Ira M; Battle, Alexis; Lappalainen, Tuuli; Im, Hae Kyung; Ardlie, Kristin G; Mostafavi, Sara; Quertermous, Thomas; Kirkegaard, Karla; Montgomery, Stephen B | Cell | 33864768 | 2021 05 13 |
Feasibility of predicting allele specific expression from DNA sequencing using machine learning. | Zhang, Zhenhua; van Dijk, Freerk; de Klein, Niek; van Gijn, Mariëlle E; Franke, Lude H; Sinke, Richard J; Swertz, Morris A; van der Velde, K Joeri | Scientific reports | 34012022 | 2021 May 19 |
AdaTiSS: a novel data-Adaptive robust method for identifying Tissue Specificity Scores. | Wang, Meng; Jiang, Lihua; Snyder, Michael P | Bioinformatics (Oxford, England) | 34146104 | 2021 Dec 07 |
Genetic drivers of m6A methylation in human brain, lung, heart and muscle. | Xiong, Xushen; Hou, Lei; Park, Yongjin P; Molinie, Benoit; GTEx Consortium; Gregory, Richard I; Kellis, Manolis | Nature genetics | 34211177 | 2021 Jul 01 |
Mapping the miRNA-mRNA Interactome in Human Hepatocytes and Identification of Functional mirSNPs in Pharmacogenes. | Powell, Nicholas R; Zhao, Harrison; Ipe, Joseph; Liu, Yunlong; Skaar, Todd C | Clinical pharmacology and therapeutics | 34314509 | 2021 10 |
Systematic evaluation of transcriptomics-based deconvolution methods and references using thousands of clinical samples. | Nadel, Brian B; Oliva, Meritxell; Shou, Benjamin L; Mitchell, Keith; Ma, Feiyang; Montoya, Dennis J; Mouton, Alice; Kim-Hellmuth, Sarah; Stranger, Barbara E; Pellegrini, Matteo; Mangul, Serghei | Briefings in bioinformatics | 34346485 | 2021 11 05 |
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. | Võsa, Urmo; Claringbould, Annique; Westra, Harm-Jan; Bonder, Marc Jan; Deelen, Patrick; Zeng, Biao; Kirsten, Holger; Saha, Ashis; Kreuzhuber, Roman; Yazar, Seyhan; Brugge, Harm; Oelen, Roy; de Vries, Dylan H; van der Wijst, Monique G P; Kasela, Silva; Per | Nature genetics | 34475573 | 2021 09 |
Identifying causal variants by fine mapping across multiple studies. | LaPierre, Nathan; Taraszka, Kodi; Huang, Helen; He, Rosemary; Hormozdiari, Farhad; Eskin, Eleazar | PLoS genetics | 34543273 | 2021 Sep |
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease. | Fairbrother-Browne, Aine; Ali, Aminah T; Reynolds, Regina H; Garcia-Ruiz, Sonia; Zhang, David; Chen, Zhongbo; Ryten, Mina; Hodgkinson, Alan | Communications biology | 34737414 | 2021 Nov 04 |
A de novo paradigm for male infertility. | Oud, M S; Smits, R M; Smith, H E; Mastrorosa, F K; Holt, G S; Houston, B J; de Vries, P F; Alobaidi, B K S; Batty, L E; Ismail, H; Greenwood, J; Sheth, H; Mikulasova, A; Astuti, G D N; Gilissen, C; McEleny, K; Turner, H; Coxhead, J; Cockell, S; Braat, D D | Nature communications | 35013161 | 2022 Jan 10 |
Mitochondrial-nuclear epistasis underlying phenotypic variation in breast cancer pathology. | Bushel, Pierre R; Ward, James; Burkholder, Adam; Li, Jianying; Anchang, Benedict | Scientific reports | 35082309 | 2022 01 26 |
A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients. | Degener, Max J F; van Cruchten, Remco T P; Otero, Brittney A; Wang, Eric T; Wansink, Derick G; 't Hoen, Peter A C | NAR genomics and bioinformatics | 35274098 | 2022 Mar |
Estimating and accounting for unobserved covariates in high-dimensional correlated data. | McKennan, Chris; Nicolae, Dan | Journal of the American Statistical Association | 35615339 | 2022 |
Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors. | Carbajosa, Guillermo; Ali, Aminah T; Hodgkinson, Alan | BMC biology | 35869520 | 2022 07 22 |
RNA editing underlies genetic risk of common inflammatory diseases. | Li, Qin; Gloudemans, Michael J; Geisinger, Jonathan M; Fan, Boming; Aguet, François; Sun, Tao; Ramaswami, Gokul; Li, Yang I; Ma, Jin-Biao; Pritchard, Jonathan K; Montgomery, Stephen B; Li, Jin Billy | Nature | 35922514 | 2022 08 |
The landscape of hervRNAs transcribed from human endogenous retroviruses across human body sites. | She, Jianqi; Du, Minghao; Xu, Zhanzhan; Jin, Yueqi; Li, Yu; Zhang, Daoning; Tao, Changyu; Chen, Jian; Wang, Jiadong; Yang, Ence | Genome biology | 36329469 | 2022 Nov 03 |
Leveraging pleiotropy for joint analysis of genome-wide association studies with per trait interpretations. | Taraszka, Kodi; Zaitlen, Noah; Eskin, Eleazar | PLoS genetics | 36342933 | 2022 Nov |
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits. | Oliva, Meritxell; Demanelis, Kathryn; Lu, Yihao; Chernoff, Meytal; Jasmine, Farzana; Ahsan, Habibul; Kibriya, Muhammad G; Chen, Lin S; Pierce, Brandon L | Nature genetics | 36510025 | 2022 Dec 12 |
Day-night and seasonal variation of human gene expression across tissues. | Wucher, Valentin; Sodaei, Reza; Amador, Raziel; Irimia, Manuel; Guigó, Roderic | PLoS biology | 36745672 | 2023 Feb |
Hypotheses on a tree: new error rates and testing strategies. | Bogomolov, Marina; Peterson, Christine B; Benjamini, Yoav; Sabatti, Chiara | Biometrika | 36825068 | 2021 Sep |
Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions. | Lindström, Sara; Wang, Lu; Feng, Helian; Majumdar, Arunabha; Huo, Sijia; Macdonald, James; Harrison, Tabitha; Turman, Constance; Chen, Hongjie; Mancuso, Nicholas; Bammler, Theo; Breast Cancer Association Consortium (BCAC); Gallinger, Steve; Gruber, Stephe | Journal of the National Cancer Institute | 36929942 | 2023 Jun 08 |
The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. | Rozowsky, Joel; Gao, Jiahao; Borsari, Beatrice; Yang, Yucheng T; Galeev, Timur; Gürsoy, Gamze; Epstein, Charles B; Xiong, Kun; Xu, Jinrui; Li, Tianxiao; Liu, Jason; Yu, Keyang; Berthel, Ana; Chen, Zhanlin; Navarro, Fabio; Sun, Maxwell S; Wright, James; Chang, Justin; Cameron, Christopher J F; Shoresh, Noam; Gaskell, Elizabeth; Drenkow, Jorg; Adrian, Jessika; Aganezov, Sergey; Aguet, François; Balderrama-Gutierrez, Gabriela; Banskota, Samridhi; Corona, Guillermo Barreto; Chee, Sora; Chhetri, Surya B; Cortez Martins, Gabriel Conte; Danyko, Cassidy; Davis, Carrie A; Farid, Daniel; Farrell, Nina P; Gabdank, Idan; Gofin, Yoel; Gorkin, David U; Gu, Mengting; Hecht, Vivian; Hitz, Benjamin C; Issner, Robbyn; Jiang, Yunzhe; Kirsche, Melanie; Kong, Xiangmeng; Lam, Bonita R; Li, Shantao; Li, Bian; Li, Xiqi; Lin, Khine Zin; Luo, Ruibang; Mackiewicz, Mark; Meng, Ran; Moore, Jill E; Mudge, Jonathan; Nelson, Nicholas; Nusbaum, Chad; Popov, Ioann; Pratt, Henry E; Qiu, Yunjiang; Ramakrishnan, Srividya; Raymond, Joe; Salichos, Leonidas; Scavelli, Alexandra; Schreiber, Jacob M; Sedlazeck, Fritz J; See, Lei Hoon; Sherman, Rachel M; Shi, Xu; Shi, Minyi; Sloan, Cricket Alicia; Strattan, J Seth; Tan, Zhen; Tanaka, Forrest Y; Vlasova, Anna; Wang, Jun; Werner, Jonathan; Williams, Brian; Xu, Min; Yan, Chengfei; Yu, Lu; Zaleski, Christopher; Zhang, Jing; Ardlie, Kristin; Cherry, J Michael; Mendenhall, Eric M; Noble, William S; Weng, Zhiping; Levine, Morgan E; Dobin, Alexander; Wold, Barbara; Mortazavi, Ali; Ren, Bing; Gillis, Jesse; Myers, Richard M; Snyder, Michael P; Choudhary, Jyoti; Milosavljevic, Aleksandar; Schatz, Michael C; Bernstein, Bradley E; Guigó, Roderic; Gingeras, Thomas R; Gerstein, Mark | Cell | 37001506 | 2023 Mar 30 |
The origins and functional effects of postzygotic mutations throughout the human life span. | Rockweiler, Nicole B; Ramu, Avinash; Nagirnaja, Liina; Wong, Wing H; Noordam, Michiel J; Drubin, Casey W; Huang, Ni; Miller, Brian; Todres, Ellen Z; Vigh-Conrad, Katinka A; Zito, Antonino; Small, Kerrin S; Ardlie, Kristin G; Cohen, Barak A; Conrad, Donald F | Science (New York, N.Y.) | 37053313 | 2023 Apr 14 |
Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease. | Hou, Lei; Xiong, Xushen; Park, Yongjin; Boix, Carles; James, Benjamin; Sun, Na; He, Liang; Patel, Aman; Zhang, Zhizhuo; Molinie, Benoit; Van Wittenberghe, Nicholas; Steelman, Scott; Nusbaum, Chad; Aguet, François; Ardlie, Kristin G; Kellis, Manolis | Nature genetics | 37770633 | 2023 Oct |
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura. | Bjornsdottir, Gyda; Chalmer, Mona A; Stefansdottir, Lilja; Skuladottir, Astros Th; Einarsson, Gudmundur; Andresdottir, Margret; Beyter, Doruk; Ferkingstad, Egil; Gretarsdottir, Solveig; Halldorsson, Bjarni V; Halldorsson, Gisli H; Helgadottir, Anna; Helga | Nature genetics | 37884687 | 2023 Nov |
Human endogenous retroviruses of the HERV-K (HML-2) family are expressed in the brain of healthy individuals and modify the composition of the brain-infiltrating immune cells. | Nevalainen, Tapio; Autio, Arttu; Hurme, Mikko | Heliyon | 37920490 | 2023 Nov |
Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits. | Brotman, Sarah M; El-Sayed Moustafa, Julia S; Guan, Li; Broadaway, K Alaine; Wang, Dongmeng; Jackson, Anne U; Welch, Ryan; Currin, Kevin W; Tomlinson, Max; Vadlamudi, Swarooparani; Stringham, Heather M; Roberts, Amy L; Lakka, Timo A; Oravilahti, Anniina; Silva, Lilian Fernandes; Narisu, Narisu; Erdos, Michael R; Yan, Tingfen; Bonnycastle, Lori L; Raulerson, Chelsea K; Raza, Yasrab; Yan, Xinyu; Parker, Stephen C J; Kuusisto, Johanna; Pajukanta, Päivi; Tuomilehto, Jaakko; Collins, Francis S; Boehnke, Michael; Love, Michael I; Koistinen, Heikki A; Laakso, Markku; Mohlke, Karen L; Small, Kerrin S; Scott, Laura J | bioRxiv : the preprint server for biology | 37961277 | 2023 Oct 27 |
Notable Histologic Findings in a "Normal" Cohort: The National Institutes of Health Genotype-Tissue Expression (GTEx) Project | Philip A Branton; Leslie Sobin; Mary Barcus; Kelly B Engel; Sarah R Greytak; Ping Guan; Jim Vaught; Helen M Moore | Arch Pathol Lab Med. | 38670546 | 2024 Apr 27 |
Histologic and Quality Assessment of Genotype-Tissue Expression (GTEx) Research Samples: A Large Postmortem Tissue Collection | Leslie Sobin; Mary Barcus; Philip A Branton; Kelly B Engel;, Judy Keen; David Tabor; Kristin G Ardlie;, Sarah R Greytak; Nancy Roche; Brian Luke; Jim Vaught; Ping Guan; Helen M Moore | Arch Pathol Lab Med. | 38797720 | 2024 May 27 |