Article

Identification of misclassified ClinVar variants using disease population prevalence

2016-09-15

Abstract excerpt

<h4>ABSTRACT</h4> There is a significant interest in the standardized classification of human genetic variants. The availability of new large datasets generated through genome sequencing initiatives provides a ground for the computational evaluation of the supporting evidence. We used whole genome sequence data from 8,102 unrelated individuals to analyze the adequacy of estimated rates of disease on the basis of...

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Literature Corpus work: 3f1d62a0-83ba-5e34-b7c4-5bc60867f46c
DOI: 10.1101/075416

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