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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: 2013
Sujets:
Article
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires