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.
bioRxiv · Oct 4, 2014Genetics