Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar

Exome sequencing of families of related individuals has been highly successful in identifying genetic polymorphisms responsible for Mendelian disorders. Here, we demonstrate the value of the reverse approach, where we use exome sequencing of a sample of unrelated individuals to analyze allele freque...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Rodriguez-Flores, Juan L., Fakhro, Khalid, Hackett, Neil R., Salit, Jacqueline, Fuller, Jennifer, Agosto-Perez, Francisco, Gharbiah, Maey, Malek, Joel A., Zirie, Mahmoud, Jayyousi, Amin, Badii, Ramin, Al-Marri, Ajayeb Al-Nabet, Chouchane, Lotfi, Stadler, Dora J., Hunter-Zinck, Haley, Mezey, Jason G., Crystal, Ronald G.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3908915/
https://ncbi.nlm.nih.gov/pubmed/24123366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22460
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