The NIH Common Fund's Gabriella Miller Kids First Pediatric Research Program’s
(“Kids First”) vision is to “alleviate suffering from childhood cancer and
structural birth defects by fostering collaborative research to uncover the
etiology of these diseases and by supporting data sharing within the pediatric
research community.” The program continues to generate and share whole genome
sequence data from thousands of children affected by these conditions, ranging
from rare pediatric cancers, such as osteosarcoma, to more prevalent
diagnoses, such as congenital heart defects. In 2018, Kids First launched the
Gabriella Miller Kids First Data Resource Center, charged with building a
large-scale data platform supporting clinical and genetic data from these
patients and their families in order to accelerate discovery and ultimately
clinical impact. Researchers can search, access, aggregate, and analyze these
data through the Kids First Data Resource Portal. Additionally, by using
cloud-based individual workspaces in CAVATICA, a data analysis and sharing
computation platform, researchers can cross-analyze Kids First data with data
from other efforts, such as NCI’s TARGET program and consortia-based datasets
like the Children’s Brain Tumor Tissue Consortium (CBTTC).
Data is updated on a rolling basis by the KFDRC to make data available as
rapidly as possible under the NIH Genomic Data Sharing Policy.
NIH Genomic Data Sharing Policy: https://gdc.cancer.gov/access-data/data-access-policies
The Gabriella Miller Kids First Data Resource Center (KFDRC) at the Children's Hospital of Philadelphia
See all datasets managed by The Gabriella Miller Kids First Data Resource Center (KFDRC) at the Children's Hospital of Philadelphia.
Tools & Applications
Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy by Eshini Panditharatna, Lindsay B Kilburn, et al.
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. by Mary C Whitman, Noriko Miyake, et al.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. by Suzanna G M Frints, Friederike Hennig, et al.
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers. by Fengqi Chang, Fumin Lin, et al.
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing. by Allison H Seiden, Felix Richter, et al.
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect by Sherin Shaaban, Sarah MacKinnon et al.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios. by Madison R Bishop, Kimberly K Diaz Perez, et al.
Genomic Analyses Implicate Noncoding De Novo Variants in Congenital Heart Disease. by Felix Richter, Sarah U Morton, et al.
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. by Laura Egolf, Zalman Vaksman, et al.
Germline microsatellite genotypes differentiate children with medulloblastoma. by Samuel Rivero-Hinojosa, Nicholas Kinney, et al.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance by William B Dobyns, Kimberly A Aldinger, et al.
MAGEL2-Related Disorders: A study and case series. by Jameson Patak, James Gilfert, et al.
Phenotype delineation of ZNF462 related syndrome. by Paul Kruszka, Tommy Hu, et al.
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. by Deanne M Taylor, Bruce J Aronow, et al.
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. by Nandita Mukhopadhyay, Madison Bishop, et al.