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Article

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Scientific reports - 3 Nov 2021

Deaton Aimee M, Parker Margaret M, Ward Lucas D, Flynn-Carroll Alexander O, BonDurant Lucas, Hinkle Gregory, Akbari Parsa, Lotta Luca A, Baras Aris, Nioi Paul

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 379,066 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1, which are known to be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34732801
DOI: 10.1038/s41598-021-99091-5
PMCID: PMC8566487

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