Article

Characterizing and comparing missense variants in monogenic disease and in cancer

2019-01-30

Abstract excerpt

In both monogenic disease and cancer a large fraction of causative mutations are missense, even though these are very different types of disease. Here we examine and compare a number of properties of these mutations in the two classes of disease to determine the extent to which the properties of the mutations are similar or different. Analysis of cancer mutations is complicated by the problem of distinguishing bet...

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Identifiers and source

Literature Corpus work: 6c439bc8-43db-5336-95a0-a6a88c26e5d0
DOI: 10.1101/534693

Open publication

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