What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

Abstract Background Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in com...

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Bibliographic Details
Main Authors: Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Medical Genomics
Subjects:
Solo
Trio
Trio plus
Whole exome sequencing
Whole genome sequencing
Extending family analysis
Online Access:http://link.springer.com/article/10.1186/s12920-020-00743-8

Internet

http://link.springer.com/article/10.1186/s12920-020-00743-8

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