Article

Accurate assignment of disease liability to genetic variants using only population data

2021-04-19

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> The growing size of public variant repositories prompted us to test the accuracy of predicting pathogenicity of DNA variants using population data alone. <h4>Methods</h4> Under the a priori assumption that the ratio of the prevalence of variants in healthy and affected populations form two distinct distributions (pathogenic and benign), we used a Bayesian method to assign pro...

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Literature Corpus work: 281b49e8-7904-57cb-8a29-fa4f6b6eabe9
DOI: 10.1101/2021.04.19.440463

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