Article

Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variants

2022-10-14

Abstract excerpt

<h4>Background</h4> In the process of finding the causative variant of rare diseases (RD), accurate assessment and prioritization of genetic variants is essential. Although quality control (QC) of genetic variants is strictly performed, the presence of artefactual variants in the remaining set of variants can deteriorate the process. Variant QC and prioritization have been treated as separate processes, leading t...

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Literature Corpus work: e38058a1-1f73-5a12-bbf0-567dd1d46c2e
DOI: 10.1101/2022.10.12.511857

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