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

Whole genome sequencing (WGS) holds promise to solve a subset of Mendelian disease cases for which exome sequencing did not provide a genetic diagnosis. Here, Wells et al. report a supervised machine learning model trained on functional, mutational and structural features for rank-scoring and interp...

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Autores principales: Alex Wells, David Heckerman, Ali Torkamani, Li Yin, Jonathan Sebat, Bing Ren, Amalio Telenti, Julia di Iulio
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/55b664ef26374b7793165c7ee6e62223
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