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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha: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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