Article

DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier

2019-11-13

Abstract excerpt

<h4>Motivation</h4> Predicting the phenotypes resulting from molecular perturbations is one of the key challenges in genetics. Both forward and reverse genetic screen are employed to identify the molecular mechanisms underlying phenotypes and disease, and these resulted in a large number of genotype–phenotype association being available for humans and model organisms. Combined with recent advances in machine lear...

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Literature Corpus work: 8ad0479e-0ab5-575e-9be5-76f5741d8f6c
DOI: 10.1101/839332

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