Revisiting the morbid genome of Mendelian disorders

Abstract

The pathogenicity of many Mendelian variants has been challenged by large-scale sequencing efforts. However, many rare and benign “disease mutations” are difficult to analyze due to their rarity. The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage that can be exploited for the critical examination of previously… (More)
DOI: 10.1186/s13059-016-1102-1

Topics

2 Figures and Tables