Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

Exome sequencing is becoming a standard tool for mapping Mendelian disease-causing (or pathogenic) non-synonymous single nucleotide variants (nsSNVs). Minor allele frequency (MAF) filtering approach and functional prediction methods are commonly used to identify candidate pathogenic mutations in the...

Full description

Bibliographic Details
Main Authors: Li, Miao-Xin, Kwan, Johnny S. H., Bao, Su-Ying, Yang, Wanling, Ho, Shu-Leong, Song, Yong-Qiang, Sham, Pak C.
Format: Online
Language:English
Published: Public Library of Science 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547823/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547823/

Similar Items