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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Detalles Bibliográficos
Autores principales: Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868241/
https://www.ncbi.nlm.nih.gov/pubmed/31748530
http://dx.doi.org/10.1038/s41467-019-13212-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868241/
https://www.ncbi.nlm.nih.gov/pubmed/31748530
http://dx.doi.org/10.1038/s41467-019-13212-3

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