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

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 associati...

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Detalles Bibliográficos
Autores principales: Kulmanov, Maxat, Hoehndorf, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710064/
https://www.ncbi.nlm.nih.gov/pubmed/33206638
http://dx.doi.org/10.1371/journal.pcbi.1008453