Melanie Shapiro laboratory

Genetics of Type 1 Diabetes Development and Immunotherapy Response

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


Journal article


Daniel J Perry, Melanie R. Shapiro, Sonya W Chamberlain, I. Kusmartseva, S. Chamala, L. Balzano-Nogueira, Mingder Yang, J. Brant, Maigan A. Brusko, MacKenzie D Williams, Kieran M Mcgrail, James A. McNichols, Leeana D. Peters, A. Posgai, J. Kaddis, C. Mathews, C. Wasserfall, B. Webb-Robertson, M. Campbell-Thompson, D. Schatz, C. Evans-Molina, A. Pugliese, P. Concannon, Mark S. Anderson, M. German, C. Chamberlain, Mark A. Atkinson, T. Brusko
Scientific Data, 2023

Semantic Scholar DOI PubMedCentral PubMed
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APA   Click to copy
Perry, D. J., Shapiro, M. R., Chamberlain, S. W., Kusmartseva, I., Chamala, S., Balzano-Nogueira, L., … Brusko, T. (2023). A genomic data archive from the Network for Pancreatic Organ donors with Diabetes. Scientific Data.


Chicago/Turabian   Click to copy
Perry, Daniel J, Melanie R. Shapiro, Sonya W Chamberlain, I. Kusmartseva, S. Chamala, L. Balzano-Nogueira, Mingder Yang, et al. “A Genomic Data Archive from the Network for Pancreatic Organ Donors with Diabetes.” Scientific Data (2023).


MLA   Click to copy
Perry, Daniel J., et al. “A Genomic Data Archive from the Network for Pancreatic Organ Donors with Diabetes.” Scientific Data, 2023.


BibTeX   Click to copy

@article{daniel2023a,
  title = {A genomic data archive from the Network for Pancreatic Organ donors with Diabetes},
  year = {2023},
  journal = {Scientific Data},
  author = {Perry, Daniel J and Shapiro, Melanie R. and Chamberlain, Sonya W and Kusmartseva, I. and Chamala, S. and Balzano-Nogueira, L. and Yang, Mingder and Brant, J. and Brusko, Maigan A. and Williams, MacKenzie D and Mcgrail, Kieran M and McNichols, James A. and Peters, Leeana D. and Posgai, A. and Kaddis, J. and Mathews, C. and Wasserfall, C. and Webb-Robertson, B. and Campbell-Thompson, M. and Schatz, D. and Evans-Molina, C. and Pugliese, A. and Concannon, P. and Anderson, Mark S. and German, M. and Chamberlain, C. and Atkinson, Mark A. and Brusko, T.}
}

Abstract

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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