Article

Human Missense Variation is Constrained by Domain Structure and Highlights Functional and Pathogenic Residues

2017-04-12

Abstract excerpt

Human genome sequencing has generated population variant datasets containing millions of variants from hundreds of thousands of individuals 1-3 . The datasets show the genomic distribution of genetic variation to be influenced on genic and sub-genic scales by gene essentiality, 1,4,5 protein domain architecture 6 and the presence of genomic features such as splice donor/acceptor sites. 2 However, the variant d...

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Literature Corpus work: 9ce87911-36ac-5ad6-a17b-b26bfa330046
DOI: 10.1101/127050

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