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

Ahmed AlfaresLamia AlsubaieTaghrid AlorainiAljoharah AlaskarAzza AlthagafiAhmed AlahmadMamoon RashidAbdulrahman AlswaidAli AlothaimWafaa EyaidFaroug AbabnehMohammed AlbalwiRaniah AlotaibiMashael AlmutairiNouf AltharawiAlhanouf AlsamerMarwa AbdelhakimSenay KafkasKatsuhiko MinetaNicole CheungAbdallah M AbdallahStine Büchmann-MøllerYoshinori FukasawaXiang ZhaoIssaac RajanRobert HoehndorfFuad Al MutairiTakashi GojoboriMajid Alfadhel
Published in: BMC medical genomics (2020)
There was no difference in the hit rate between solo and extended family members. Trio-based analysis was a better approach than sibship testing, even in a consanguineous population. Finally, each additional family member helped to narrow down the number of variants by 50-75%. Our findings could help clinicians, researchers and testing laboratories select the most cost-effective and appropriate sequencing approach for their patients. Furthermore, using extended family analysis is a very useful tool for complex cases with novel genes.
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