Article

Genetic associations of protein-coding variants in human disease

2021-10-16

Abstract excerpt

Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have thus far remained largely underpowered to identify associations in the rare and low frequency allelic spectrum and have lacked the resolution to trace causal mechanisms to underlying genes. Here, we combined whole exome sequencing in 392,814 UK Biobank participants with imput...

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Literature Corpus work: f7d2eca7-4eb0-5d28-84e6-214f9f9145e0
DOI: 10.1101/2021.10.14.21265023

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