Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes

We meta-analyzed array data imputed with the TOPMed reference panel and whole-genome sequence (WGS) datasets and performed the largest, rare variant (minor allele frequency as low as 5×10(−5)) GWAS meta-analysis of type 2 diabetes (T2D) comprising 51,256 cases and 370,487 controls. We identified 52...

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Detalles Bibliográficos
Autores principales: Schroeder, Philip, Mandla, Ravi, Huerta-Chagoya, Alicia, Alkanak, Ahmed, Nagy, Dorka, Szczerbinski, Lukasz, Madsen, Jesper G.S., Cole, Joanne B., Porneala, Bianca, Westerman, Kenneth, Li, Josephine H., Pollin, Toni I., Florez, Jose C., Gloyn, Anna L., Cebola, Inês, Manning, Alisa, Leong, Aaron, Udler, Miriam, Mercader, Josep M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557807/
https://www.ncbi.nlm.nih.gov/pubmed/37808701
http://dx.doi.org/10.1101/2023.09.28.23296244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557807/
https://www.ncbi.nlm.nih.gov/pubmed/37808701
http://dx.doi.org/10.1101/2023.09.28.23296244

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