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 |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/3eba2ec7d59241e2a1ea8ba7d9c77d4a |
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