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A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes

2022-07-14

Abstract excerpt

<h4>ABSTRACT</h4> Nearly 14% of disease-causing germline variants result from disruption of mRNA splicing. Most (67%) DNA variants predicted in silico to disrupt splicing end up classified as variants of uncertain significance (VUS). We developed and validated an analytic workflow — Sp lice E ffect E vent R esolver (SPEER) — that uses mRNA sequencing to reveal significant deviations in splicing, pinpoints th...

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Literature Corpus work
71a946c1-1a57-5a12-90a7-c2a6ac6528e6
DOI
10.1101/2022.07.12.499782
Open publication

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