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

@inproceedings{Li2013PredictingMD,
  title={Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies},
  author={Miao-Xin Li and Johnny S. H. Kwan and Su-Ying Bao and Wanling Yang and S E Ho and Yong-Qiang Song and Pak Chung Sham},
  booktitle={PLoS genetics},
  year={2013}
}
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 these studies. Combining multiple functional prediction… CONTINUE READING