Sequencing and health data resource of children of African ancestry.
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Kottyan Leah C, Richards Scott, Tracy Morgan E, Lawson Lucinda P, Kottyan Isabelle C, Curwin Annika, Cobb Beth, Esslinger Steve, Gerwe Margaret, Morgan James, Chandel Alka, Travitz Leksi, Huang Yongbo, Black Catherine, Sobowale Agboade, Akintobi Tinuke, Mitchell Monica J, Beck Andrew F, Unaka Ndidi, Seid Michael, Fairbanks Sonja, Adams Michelle, Mersha Tesfaye B, Namjou Bahram, Pauciulo Michael W, Strawn Jeffrey R, Ammerman Robert T, Santel Daniel, Pestian John, Glauser Tracy, Prows Cynthia A, Martin Lisa J, Muglia Louis, Harley John B, Chepelev Iouri, Kaufman Kenneth M
Аннотация
METHODS: Participants were enrolled through the CCHMC Discover Together Biobank and sequenced. Admixture analyses confirmed the genetic ancestry of the cohort, which was then linked to electronic medical records.
RESULTS: Genome-wide genotypes from common variants accompanied by medical record-sourced data are available through the Genomic Information Commons. This data set performs well in genetic studies. Specifically, we replicated known associations in sickle-cell disorder (HBB, HGNC:4827, P = 4.05 × 10-148), anxiety (PLAAT3, HGNC:17825, P = 6.93 × 10-9), and asthma (PCDH15, HGNC:14674, P = 5.6 × 10-10), while also identifying novel loci associated with anxiety, asthma, and asthma severity.
CONCLUSION: We present the acquisition and quality of genetic and disease-associated data and present an analytical framework for using this resource. In partnership with a community advisory council, we have codeveloped a valuable framework for data use and future research.