Article

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

2022-10-26

Abstract excerpt

While both molecular and phenotypic data are essential when interpreting genetic variants, prediction scores (CADD, PolyPhen, and SIFT) have focused on molecular details to evaluate pathogenicity — omitting phenotypic features. To unlock the full potential of phenotypic data, we developed PhenoScore: an open source, artificial intelligence-based phenomics framework. PhenoScore combines facial recognition technolog...

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Literature Corpus work: 12e68897-ef90-52fa-ad08-944dd6ad25da
DOI: 10.1101/2022.10.24.22281480

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