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A genomic data archive from the Network for Pancreatic Organ donors with Diabetes
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 d...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219990/ https://www.ncbi.nlm.nih.gov/pubmed/37237059 http://dx.doi.org/10.1038/s41597-023-02244-6 |
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author | 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. |
author_facet | 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. |
author_sort | Perry, Daniel J. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10219990 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-102199902023-05-28 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. Sci Data Data Descriptor 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. Nature Publishing Group UK 2023-05-26 /pmc/articles/PMC10219990/ /pubmed/37237059 http://dx.doi.org/10.1038/s41597-023-02244-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Data Descriptor 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. A genomic data archive from the Network for Pancreatic Organ donors with Diabetes |
title | A genomic data archive from the Network for Pancreatic Organ donors with Diabetes |
title_full | A genomic data archive from the Network for Pancreatic Organ donors with Diabetes |
title_fullStr | A genomic data archive from the Network for Pancreatic Organ donors with Diabetes |
title_full_unstemmed | A genomic data archive from the Network for Pancreatic Organ donors with Diabetes |
title_short | A genomic data archive from the Network for Pancreatic Organ donors with Diabetes |
title_sort | genomic data archive from the network for pancreatic organ donors with diabetes |
topic | Data Descriptor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219990/ https://www.ncbi.nlm.nih.gov/pubmed/37237059 http://dx.doi.org/10.1038/s41597-023-02244-6 |
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