Whole genome sequence (WGS) and phenotype data for the Disorders of Sex Development (DSD) study (Accession: phs001178) are now available to the biomedical research community through the NIH’s Database of Genotypes and Phenotypes (dbGaP) and the Kids First Data Resource Portal (link is external). 

DSD are congenital conditions that involves abnormalities of sexual development. The goal of this project led by Dr. Eric Vilain, is to identify disease causing variants for DSD. 

To access and analyze these datasets apply for access through dbGaP. Once approved, a user will receive instructions from dbGaP on how to access the data housed by the DRC. For help with these datasets, you may contact support@kidsfirstdrc.org (link sends e-mail).
 

Whole genome sequence (WGS) data for the “Adolescent Idiopathic Scoliosis (AIS)” project (Accession:phs001410.v1.p1) are now available to the biomedical research community. 

AIS is a developmental defect of the spine and is the most common pediatric musculoskeletal defect. The goal of the project led by Drs. Jonathan Rios and Carol Wise, is to perform WGS to identify genetic causes of AIS. 

To search, access, and analyze this dataset, apply for access through NIH’s Database of Genotypes and Phenotypes (dbGaP) at https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001410.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) (link is external). For help with this dataset, you may contact support@kidsfirstdrc.org (link sends e-mail). 

The Gabriella Miller Kids First Data Resource Center (DRC) (link is external) has launched the Gabriella Miller Kids First Data Resource Portal, a centralized database of well-curated clinical and genetic sequence data from patients with childhood cancer or structural birth defects and their families. The portal includes sequence data from approximately 8,000 DNA and RNA samples and is expected to grow to 30,000 samples over the next few years. The Kids First Data Resource Portal will allow researchers everywhere access to vast amounts of pediatric genomic and clinical data to accelerate their research. Read more (link is external) about the portal.

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.

Whole genome sequence (WGS) data for the “Congenital Cranial Dysinnervation Disorders and Related Birth Defects” project (Accession Number: phs001247.v1.p1) are now available to the biomedical research community. 

Congenital Cranial Dysinnervation Disorders (CCDDs) are developmental abnormalities of one or more cranial nerves, typically resulting in weakness of eye and/or face movement. The goal of this project, led by Dr. Elizabeth Engle, is to generate WGS data to identify shared genetic pathways among CCDDs. This project will provide insight into the genetic aspects of CCDDs. 

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=phs001247.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) (link is external). For help with this dataset, you may contact support@kidsfirstdrc.org (link sends e-mail). 
 

You can view abstracts for additional Kids First projects and estimated data release dates on the Kids First X01 project page. For questions regarding the Kids First program, please email: KidsFirst@od.nih.gov (link sends e-mail). 

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.