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Article

Revisiting the morbid genome of Mendelian disorders.

Genome biology - 24 Nov 2016

Abouelhoda Mohamed, Faquih Tariq, El-Kalioby Mohamed, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: 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 published variants. RESULTS: We collated all...

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Identifiers

PMID: 27884173
DOI: 10.1186/s13059-016-1102-1
PMCID: PMC5123336

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BRCA1
BRCA2

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