Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Genome Biol
Autors principals: Abouelhoda, Mohamed, Faquih, Tariq, El-Kalioby, Mohamed, Alkuraya, Fowzan S.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!