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

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

Abstract 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-sequen...

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Autores principales: Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/3eba2ec7d59241e2a1ea8ba7d9c77d4a
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https://doaj.org/article/3eba2ec7d59241e2a1ea8ba7d9c77d4a

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