DeepPheno: Predicting single gene loss of function phenotypes.

Maxat Kulmanov, Robert Hoehndorf
PLoS Computational Biology , (2020)

Keywords

phenotypes, molecular pertubations, genetics, disease, machine learning

Abstract

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 learning, it may now be possible to predict human phenotypes resulting from particular molecular aberrations.

Code

10.1101/839332

Sources

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