Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

Sami S. Amr, Saeed H. Al Turki, Matthew Lebo, Mahdi Sarmady, Heidi L. Rehm, Ahmad N. Abou Tayoun
2016 Genetics in Medicine  
doi:10.1038/gim.2016.134 pmid:27657688 fatcat:h5mi4flhmffqdft2zs6f3lm6hm