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Revisiting the morbid genome of Mendelian disorders

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 th...

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Dettagli Bibliografici
Pubblicato in:Genome Biol
Autori principali: Abouelhoda, Mohamed, Faquih, Tariq, El-Kalioby, Mohamed, Alkuraya, Fowzan S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123336/
https://ncbi.nlm.nih.gov/pubmed/27884173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-016-1102-1
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