A genomic data archive from the Network for Pancreatic Organ donors with Diabetes

Perry, Daniel J.; Shapiro, Melanie R.; Chamberlain, Sonya W.; Kusmartseva, Irina; 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.; Kaddis, John S.; Mathews, Clayton E.; Wasserfall, Clive H.; Webb-Robertson, Bobbie-Jo M.; 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.

doi:10.1038/s41597-023-02244-6

Title: A genomic data archive from the Network for Pancreatic Organ donors with Diabetes

Journal Article · Fri May 26 00:00:00 EDT 2023 · Scientific Data

DOI:https://doi.org/10.1038/s41597-023-02244-6· OSTI ID:1984205

^[1];

^[1]; Chamberlain, Sonya W. ^[2];

^[1]; Chamala, Srikar ^[1]; Balzano-Nogueira, Leandro ^[1]; Yang, Mingder ^[1]; Brant, Jason O. ^[1]; Brusko, Maigan ^[1]; Williams, MacKenzie D. ^[1]; McGrail, Kieran M. ^[1]; McNichols, James ^[1]; Peters, Leeana D. ^[1];

^[1]; Kaddis, John S. ^[3]; Mathews, Clayton E. ^[1]; Wasserfall, Clive H. ^[1];

^[4]; Campbell-Thompson, Martha ^[1]; Schatz, Desmond ^[1] more »

Univ. of Florida, Gainesville, FL (United States)
Univ. of California, San Francisco, CA (United States)
Beckman Research Institute, Duarate, CA (United States)
Univ. of Florida, Gainesville, FL (United States); Pacific Northwest National Laboratory (PNNL), Richland, WA (United States)
Indiana University School of Medicine, Indianapolis IN (United States)
Univ. of Miami, FL (United States)

The 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.

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Research Organization:: Pacific Northwest National Laboratory (PNNL), Richland, WA (United States)

Sponsoring Organization:: USDOE; National Institutes of Health (NIH); Leona M. & Harry B. Helmsley Charitable Trust; JDRF

Grant/Contract Number:: AC05-76RL01830

OSTI ID:: 1984205

Report Number(s):: PNNL-SA-185902

Journal Information:: Scientific Data, Vol. 10, Issue 1; ISSN 2052-4463

Publisher:: Nature Publishing GroupCopyright Statement

Country of Publication:: United States

Language:: English

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59 BASIC BIOLOGICAL SCIENCES
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MODY
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Title: A genomic data archive from the Network for Pancreatic Organ donors with Diabetes

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References (63)

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