Kids First DRC has launched the Kids First Data Resource Portal
The Gabriella Miller Kids First Data Resource Center (DRC) 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 about the portal.
Kids First: Genomic Data for Congenital Cranial Dysinnervation Disorders Project is Now Available
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). For help with this dataset, you may contact email@example.com.
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.
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 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.
This page last reviewed on September 10, 2018