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نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
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
 
لغة الوثيقة : الانجليزية 
المستخلص : 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. 
ردمد : 1471-2350 
اسم الدورية : BMC medical genetics 
المجلد : 17 
العدد : 1 
سنة النشر : 1437 هـ
2016 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Tuesday, July 18, 2017 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
Ashraf DallolDallol, Ashraf باحثدكتوراه 
Kamal DaghistaniDaghistani, Kamal باحثدكتوراه 
Aisha ElaimiElaimi, Aisha باحثدكتوراه 
Wissam A Al-WazaniAl-Wazani, Wissam Aباحثدكتوراه 
Afaf BamanieBamanie, Afaf باحثدكتوراه 
Malek SafiahSafiah, Malek باحثدكتوراه 
Samira SagatySagaty, Samira باحثدكتوراه 
Layla TahaTaha, Layla باحثدكتوراه 
Rawabi ZahedZahed, Rawabi باحثدكتوراه 
Osama BajouhBajouh, Osama باحثدكتوراه 
Adeel Gulzar ChaudharyChaudhary, Adeel Gulzarباحثدكتوراه 
Mamdooh Abdullah GariGari, Mamdooh Abdullahباحثدكتوراه 
Rola TurkiTurki, Rola باحثدكتوراه 
Mohammed Hussein Al-QahtaniAl-Qahtani, Mohammed Husseinباحثدكتوراه 
Adel Mohammed AbuzenadahAbuzenadah, Adel Mohammedباحثدكتوراه 

الملفات

اسم الملفالنوعالوصف
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