Article

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

2023-09-29

Abstract excerpt

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 novel variants at genome-wide significance ( p <5 × 10 −8 ), including 8 novel variants that were either rare or ance...

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Literature Corpus work: ab00200a-0bb8-5eba-ac7e-a86a816a76ad
DOI: 10.1101/2023.09.28.23296244

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