Article

Assessing performance of pathogenicity predictors using clinically-relevant variant datasets

2020-02-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Pathogenicity predictors are an integral part of genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically-relevant dataset has not been undertaken. <h4>Methods</h4> We derive two validation datasets: an “open” dataset containing variants extracted from publicly-available databases, similar to those commonly...

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Literature Corpus work: 67b3e73c-1cd3-553c-b96b-20d409734913
DOI: 10.1101/2020.02.06.937169

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