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

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Abstract

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.

Year of Publication
2020
Journal
BMC Medical Genomics
URL
https://doi.org/10.1186/s12920-020-00743-8
DOI
https://doi.org/10.1186/s12920-020-00743-8
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