Annotating pathogenic non-coding variants in genic regions

@inproceedings{Gelfman2017AnnotatingPN,
  title={Annotating pathogenic non-coding variants in genic regions},
  author={Sahar Gelfman and Quanli Wang and Keisha Melodi McSweeney and Zhong Ren and Francesca La Carpia and Matt Halvorsen and Kelly Schoch and Fanni Ratzon and Erin L. Heinzen and Michael J. Boland and Slav{\'e} Petrovski and David K. Goldstein},
  booktitle={Nature Communications},
  year={2017}
}
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses… CONTINUE READING