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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...

詳細記述

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書誌詳細
出版年:Genet Med
主要な著者: Wang, Jun, Liu, Hehe, Bertrand, Renae Elaine, Sarrion-Perdigones, Alejandro, Gonzalez, Yezabel, Venken, Koen J.T., Chen, Rui
フォーマット: Artigo
言語:Inglês
出版事項: 2020
主題:
オンライン・アクセス: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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