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...

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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2013
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Article
Online pristup: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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