Article

Gene family information facilitates variant interpretation and identification of disease-associated genes

2017-07-05

Abstract excerpt

Differentiating risk-conferring from benign missense variants, and therefore optimal calculation of gene-variant burden, represent a major challenge in particular for rare and genetic heterogeneous disorders. While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes are paralogs and belong to gene families. It has not been thoroughly investi...

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Literature Corpus work: bb390e9e-4b6a-539d-acf5-26c7e93186c3
DOI: 10.1101/159780

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