Article

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

2019-01-02

Abstract excerpt

The growing availability of human genetic variation has given rise to novel methods of measuring genetic tolerance that better interpret variants of unknown significance. We recently developed a novel concept based on protein domain homology in the human genome to improve variant interpretation. For this purpose we mapped population variation from the Exome Aggregation Consortium (ExAC) and pathogenic mutations fr...

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Literature Corpus work: 048359ca-bf9e-55c8-a026-c02d54fde896
DOI: 10.1101/509935

Open publication

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