Article

Data-driven modelling of mutational hotspots and <i>in-silico</i> predictors in hypertrophic cardiomyopathy

2019-10-31

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Although rare-missense variants in Mendelian disease-genes have been noted to cluster in specific regions of proteins, it is not clear how to consider this information when evaluating the pathogenicity of a gene or variant. Here we introduce methods for gene-association and variant-interpretation that utilise this powerful signal. <h4>Methods</h4> We present a case-control...

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Literature Corpus work: 3715f8f4-c6f9-5200-a964-a3a333927d90
DOI: 10.1101/826164

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