Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
Robert P Brown, Hane Lee, Ascia Eskin, Gleb Kichaev, Kirk E Lohmueller, Bruno Reversade, Stanley F Nelson, Bogdan Pasaniuc
This paper improves causal variant identification in exome sequencing for monogenic disorders by incorporating ancestry information to reduce false negatives and improve variant filtering.
European Journal of Human Genetics · Apr 22, 2015Peer-reviewedGenetics