Genomic Answers for Kids Version 5 Data Release on the AnVIL Platform

Children’s Mercy, a nationally recognized and leading pediatric health system in Kansas City, released new data to help experts find breakthrough answers and treatments for rare, pediatric genetic conditions. Genomic Answers for Kids (GA4K), a research initiative of the Children’s Mercy Research Institute, is a pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions. The study generates genomic data and collects health information, including phenotypic and family history information, for thousands of children and their families. Controlled-access data is available for the study of pediatric disease.

The new data release includes:

• Over 2,000 long-read genome sequences
• Over 12,000 short-read genome and exome analyses
• Nearly 400 snapshots of patient transcriptomes and epigenomes in individual cells using single-cell RNA (scRNA) and sc open chromatin (scATAC)
• Over 3,000 bulk whole genome bisulfite genome sequences for methylome interpretation
• Over 200 functional assessments in available patient tissues using full length cDNA sequences by IsoSeq (PacBio) methodology

Access requests for this controlled data are available through dbGaP under accession phs002206.v5.p1 and the data is available at https://explore.anvilproject.org/datasets or https://duos.org/datalibrary/anvil.

Variants identified in Genomic Answers for Kids are also deposited in the open access Beacon Network.

To learn more about the Children’s Mercy GA4K pediatric data repository – a study that generates genomic data and collects phenotypic and family history information to help thousands of kids and their loved ones – visit childrensmercy.org.