Revisiting the morbid genome of Mendelian disorders


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


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