A genomic data archive from the Network for Pancreatic Organ donors with Diabetes
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Published:2023-05-26
Issue:1
Volume:10
Page:
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ISSN:2052-4463
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Container-title:Scientific Data
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language:en
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Short-container-title:Sci Data
Author:
Perry Daniel J.ORCID, Shapiro Melanie R.ORCID, Chamberlain Sonya W., Kusmartseva IrinaORCID, Chamala Srikar, Balzano-Nogueira Leandro, Yang Mingder, Brant Jason O., Brusko Maigan, Williams MacKenzie D., McGrail Kieran M., McNichols James, Peters Leeana D., Posgai Amanda L.ORCID, Kaddis John S., Mathews Clayton E., Wasserfall Clive H., Webb-Robertson Bobbie-Jo M.ORCID, Campbell-Thompson Martha, Schatz Desmond, Evans-Molina Carmella, Pugliese Alberto, Concannon Patrick, Anderson Mark S., German Michael S., Chamberlain Chester E., Atkinson Mark A., Brusko Todd M.ORCID
Abstract
AbstractThe Network for Pancreatic Organ donors with Diabetes (nPOD) is the largest biorepository of human pancreata and associated immune organs from donors with type 1 diabetes (T1D), maturity-onset diabetes of the young (MODY), cystic fibrosis-related diabetes (CFRD), type 2 diabetes (T2D), gestational diabetes, islet autoantibody positivity (AAb+), and without diabetes. nPOD recovers, processes, analyzes, and distributes high-quality biospecimens, collected using optimized standard operating procedures, and associated de-identified data/metadata to researchers around the world. Herein describes the release of high-parameter genotyping data from this collection. 372 donors were genotyped using a custom precision medicine single nucleotide polymorphism (SNP) microarray. Data were technically validated using published algorithms to evaluate donor relatedness, ancestry, imputed HLA, and T1D genetic risk score. Additionally, 207 donors were assessed for rare known and novel coding region variants via whole exome sequencing (WES). These data are publicly-available to enable genotype-specific sample requests and the study of novel genotype:phenotype associations, aiding in the mission of nPOD to enhance understanding of diabetes pathogenesis to promote the development of novel therapies.
Funder
JDRF U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases Division of Intramural Research, National Institute of Allergy and Infectious Diseases
Publisher
Springer Science and Business Media LLC
Subject
Library and Information Sciences,Statistics, Probability and Uncertainty,Computer Science Applications,Education,Information Systems,Statistics and Probability
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