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Ranking of non-coding pathogenic variants and putative essential regions of the human genome

A gene is considered essential if loss of function results in loss of viability, fitness or in disease. This concept is well established for coding genes; however, non-coding regions are thought less likely to be determinants of critical functions. Here we train a machine learning model using functi...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6868241/
https://ncbi.nlm.nih.gov/pubmed/31748530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-13212-3
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