Article

Comparison of missing data handling methods for variant pathogenicity predictors

2022-06-18

Abstract excerpt

<h4>Background: </h4> Modern clinical genetic tests utilize next-generation sequencing (NGS) approaches to comprehensively analyze genetic variants from patients. Out of these millions of variants, clinically relevant variants that match the patient's phenotype need to be identified accurately within a rapid timeframe that facilitates clinical action. As manual evaluation of variants is not a feasible option for m...

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Literature Corpus work: d1bd7989-a303-5c7a-9546-4113431e3104
DOI: 10.1101/2022.06.17.496578

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