Article

Predicting Pathogenicity of Missense Variants with Weakly Supervised Regression

2019-02-10

Abstract excerpt

Quickly growing genetic variation data of unknown clinical significance demand computational methods that can reliably predict clinical phenotypes and deeply unravel molecular mechanisms. On the platform enabled by CAGI (Critical Assessment of Genome Interpretation), we develop a novel “weakly supervised” regression (WSR) model that not only predicts precise clinical significance (probability of pathogenicity) fro...

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Literature Corpus work: 1d56232c-fc48-54de-8249-6b40625530bf
DOI: 10.1101/545913

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