MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants

@inproceedings{Gosalia2017MAPPINAM,
  title={MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants},
  author={Nehal Gosalia and Aris N. Economides and Frederick E. Dewey and Suganthi Balasubramanian},
  booktitle={Nucleic acids research},
  year={2017}
}
Nonsynonymous single nucleotide variants (nsSNVs) constitute about 50% of known disease-causing mutations and understanding their functional impact is an area of active research. Existing algorithms predict pathogenicity of nsSNVs; however, they are unable to differentiate heterozygous, dominant disease-causing variants from heterozygous carrier variants… CONTINUE READING