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

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 parti...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566487/
https://www.ncbi.nlm.nih.gov/pubmed/34732801
http://dx.doi.org/10.1038/s41598-021-99091-5