Document Details

Document Type : Article In Journal 
Document Title :
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia
 
Document Language : English 
Abstract : Background: Hearing Impairment (HI) can have genetic or environmental causes and in some cases, an interplay of both. Genetic causes are difficult to determine as mutations in more than 90 genes have been shown recently to be responsible for HI. Providing a genetic diagnostic test for HI is therefore a challenge especially for ethnic groups where GJB2 mutations are shown to be rare. Results: Here we show the design and implementation of an amplicon-based targeted sequencing panel that allows the simultaneous sequencing of 87 HI genes. Mutations identified included known pathogenic mutations and novel variants with unknown significance. The diagnostic rate of this panel is 28 % when only pathogenic variants were reported. However, an additional 28 % harbored recurrent combinations of novel or rare single nucleotide variants in the OTOF or PCDH15 genes. Such combinations were not identified in healthy individuals. Conclusions: Targeted sequencing approach is a very useful strategy for the identification of mutations affecting the HI genes because of its relatively fast turn-around time and cost effectiveness compared to whole-exome sequencing. Further novel or rare variants could be identified by implementing a large-scale screening of HI using our panel which will eventual lead to a higher diagnostic rate. 
ISSN : 1471-2350 
Journal Name : BMC medical genetics 
Volume : 17 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Tuesday, July 18, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Ashraf DallolDallol, Ashraf ResearcherDoctorate 
Kamal DaghistaniDaghistani, Kamal ResearcherDoctorate 
Aisha ElaimiElaimi, Aisha ResearcherDoctorate 
Wissam A Al-WazaniAl-Wazani, Wissam AResearcherDoctorate 
Afaf BamanieBamanie, Afaf ResearcherDoctorate 
Malek SafiahSafiah, Malek ResearcherDoctorate 
Samira SagatySagaty, Samira ResearcherDoctorate 
Layla TahaTaha, Layla ResearcherDoctorate 
Rawabi ZahedZahed, Rawabi ResearcherDoctorate 
Osama BajouhBajouh, Osama ResearcherDoctorate 
Adeel Gulzar ChaudharyChaudhary, Adeel GulzarResearcherDoctorate 
Mamdooh Abdullah GariGari, Mamdooh AbdullahResearcherDoctorate 
Rola TurkiTurki, Rola ResearcherDoctorate 
Mohammed Hussein Al-QahtaniAl-Qahtani, Mohammed HusseinResearcherDoctorate 
Adel Mohammed AbuzenadahAbuzenadah, Adel MohammedResearcherDoctorate 

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