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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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
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
Descripción
Sumario: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.