What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
Version 2 2020-07-31, 04:25
Version 1 2020-07-18, 04:05
Posted on 2020-07-31 - 04:25
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%, respectively. The total number of candidate variants in the sibship testing strategy was 117 variants compared to 59 variants in the trio-based analysis. We noticed that the average number of coding candidate variants in trio-based analysis was 1192 variants and 26,454 noncoding variants, and this number was lowered by 50–75% after adding additional family members, with up to two coding and 66 noncoding homozygous variants only, in families with eight family members. Conclusion 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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Alfares, Ahmed; Alsubaie, Lamia; Aloraini, Taghrid; Alaskar, Aljoharah; Althagafi, Azza; Alahmad, Ahmed; et al. (2020). What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.5066525.v2
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AUTHORS (29)
AA
Ahmed Alfares
LA
Lamia Alsubaie
TA
Taghrid Aloraini
AA
Aljoharah Alaskar
AA
Azza Althagafi
AA
Ahmed Alahmad
MR
Mamoon Rashid
AA
Abdulrahman Alswaid
AA
Ali Alothaim
WE
Wafaa Eyaid
FA
Faroug Ababneh
MA
Mohammed Albalwi
RA
Raniah Alotaibi
MA
Mashael Almutairi
NA
Nouf Altharawi
AA
Alhanouf Alsamer
MA
Marwa Abdelhakim
SK
Senay Kafkas
KM
Katsuhiko Mineta
NC
Nicole Cheung