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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Detalles Bibliográficos
Autores principales: Wang, Jun, Liu, Hehe, Bertrand, Renae Elaine, Sarrion-Perdigones, Alejandro, Gonzalez, Yezabel, Venken, Koen J.T., Chen, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796914/
https://www.ncbi.nlm.nih.gov/pubmed/32884132
http://dx.doi.org/10.1038/s41436-020-00948-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796914/
https://www.ncbi.nlm.nih.gov/pubmed/32884132
http://dx.doi.org/10.1038/s41436-020-00948-3

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