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 complex and unsolved cases.

Methods

Three cohorts were used for this analysis: one cohort to assess the hit rate between solo, trio and trio plus testing, another cohort to examine the impact of the testing strategy of sibship genome vs trio-based analysis, and a third cohort to test the impact of an extended family analysis of up to eight family members to lower the number of candidate variants.

Results

The hit rates in solo, trio and trio plus testing were 39, 40, and 41%, respective

SUBMITTER: Alfares A 

PROVIDER: S-EPMC7368798 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature