Article

Saturation-scale functional evidence supports clinical variant interpretation in Lynch Syndrome

2022-08-10

Abstract excerpt

Lynch Syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of variants of uncertain significance (VUS), especially missense changes. To address this challenge, we leveraged a multiplex analysis of variant effect (MAVE) map covering >94% of the 17,746 possible missense var...

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Literature Corpus work: 81c81031-7a1c-57bc-87df-cfa14bbfaf10
DOI: 10.1101/2022.08.08.22278549

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