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Gene-level analysis of rare variants in 363,977 whole exome sequences identifies an association of <i>GIGYF1</i> loss of function with type 2 diabetes

2021-01-25

Abstract excerpt

Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 363,977 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1 , which are known to be i...

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Literature Corpus work
f7745f33-bac6-5426-990c-258c45b00e3e
DOI
10.1101/2021.01.19.21250105
Open publication

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Gene-level analysis of rare variants in 363,977 whole exome sequences identifies an association of <i>GIGYF1</i> loss of function with type 2 diabetesDOI 10.1101/2021.01.19.21250105
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