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A novel statistical method for interpreting the pathogenicity of rare variants

PURPOSE: To achieve the ultimate goal of personalized treatment of patients, accurate molecular diagnosis and precise interpretation of the impact of genetic variants on gene function is essential. With the sequencing cost becoming increasingly affordable, accurate distinguishing benign from pathoge...

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Publicado en:Genet Med
Main Authors: Wang, Jun, Liu, Hehe, Bertrand, Renae Elaine, Sarrion-Perdigones, Alejandro, Gonzalez, Yezabel, Venken, Koen J.T., Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7796914/
https://ncbi.nlm.nih.gov/pubmed/32884132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00948-3
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