Article

Leveraging cancer mutation data to predict the pathogenicity of germline missense variants

2024-03-13

Abstract excerpt

<h4>ABSTRACT</h4> Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of...

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Literature Corpus work: 80cb05f4-f0fd-5164-a8e7-8255824e6bf7
DOI: 10.1101/2024.03.11.24304106

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