Article

Evaluation of<i>in silico</i>pathogenicity prediction tools for the classification of small in-frame indels

2022-11-01

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classifying missense variants, in-frame insertions/deletions (indels) have been much less well studied. <h4>Methods</h4> We created a dataset of...

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Literature Corpus work: 059c582e-83cc-50c6-98a3-5addddd19692
DOI: 10.1101/2022.10.27.22281598

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