Kids First: Genomic Studies of Ewing sarcoma Data Now Available
Whole genome sequence data for the “Genetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios” project (Accession Number: phs001228) are now available to the biomedical research community.
Ewing sarcoma (ES) is a pediatric bone cancer that occurs in children and adolescents. This project, led by Dr. Joshua Schiffman, was selected for sequencing in 2015 will help us understand the genetic basis of ES. Furthermore, this cohort was selected for additional sequencing in 2017, and those data will be made available in the future.
To search, access, and analyze this dataset, apply for access through NIH’s Database of Genotypes and Phenotypes (dbGaP): https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001228.v1.p1. Once approved, a user will receive instructions from dbGaP on how to access the data housed by the Kids First Data Resource Center (DRC). For help, you may contact firstname.lastname@example.org.
Third Set of Childhood Cancer and Structural Birth Defect Patient Cohorts Announced
Kids First is pleased to announce the selection of a third set of childhood cancer and structural birth defects patient cohorts for whole genome sequencing. These patient cohorts will contribute to the forthcoming Kids First Data Resource which will allow scientists to identify genetic pathways that underlie these conditions and to explore whether shared genetic pathways exist between childhood cancer and structural birth defects. The applications were reviewed by a panel of external scientific experts and the selected cohorts address the following conditions:
- Developmental disorders of the skull (nonsyndromic craniosynostosis)
- Cleft lip and cleft palate (Orofacial Cleft Birth Defects)
- Developmental disorders of the chest muscle used for breathing (Congenital Diaphragmatic Hernia)
- Abnormal smallness of the face (Craniofacial Microsomia)
- Cancer in the bone or soft tissue (Ewing sarcoma)
- Noncancerous (benign) tumors developed in the blood vessels (infantile hemangiomas)
- Noncancerous tumors of cartilage that develop within the bones (Enchondromatoses)
- Patients with diagnoses of both childhood cancer and birth defects
The Kids First program will to call for applications to support whole genome sequencing of additional childhood cancer and structural birth defect cohorts in fiscal year 2018, pending availability of funds.
An FY15 X01 Project's Data is Now Publicly Available in dbGaP
In FY2015, Kids First selected the Genomic Analysis of Congenital Diaphragmatic Hernia cohort for whole genome sequencing. DNA sequence and clinical phenotype data for this project is now available in dbGap, and will be accessible through the forthcoming Kids First Data Resource. Until the Kids First Data Resource is completed researchers can visit the research projects page for the data release dates for each of the cohorts and the FAQs page for guidance on how to access the data.
Kids First: Genomic Studies of Orofacial Cleft Birth Defects Data Available
DNA sequence and clinical phenotype data for the "Genomic Studies of Orofacial Cleft Birth Defects” project (Accession Number:phs001168.v1.p1) are now available for access through NIH’s Database of Genotypes and Phenotypes (dbGaP).
This Kids First cohort was selected for sequencing in 2015. Additional datasets from childhood cancer and other structural birth defects patient cohorts, selected through our X01 projects are forthcoming.
For questions, please email: KidsFirst@od.nih.gov.
Gabriella Miller Kids First Pediatric Research Program will establish a New Pediatric Data Resource Center
The Kids First Program is establishing a Kids First Data Resource Portal in collaboration with The Center for Data Driven Discovery in Biomedicine at Children's Hospital of Philadelphia (CHOP) to allow researchers everywhere access to vast amounts of childhood cancer and structural birth defects genetics data. To learn more, visit https://kidsfirstdrc.org/
This page last reviewed on July 3, 2018