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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...
Autores principales: | Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
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 |
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