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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Detalles Bibliográficos
Autores principales: Abouelhoda, Mohamed, Faquih, Tariq, El-Kalioby, Mohamed, Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123336/
https://www.ncbi.nlm.nih.gov/pubmed/27884173
http://dx.doi.org/10.1186/s13059-016-1102-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123336/
https://www.ncbi.nlm.nih.gov/pubmed/27884173
http://dx.doi.org/10.1186/s13059-016-1102-1

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