ArticleBMC medical genomics2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.Scientific reports · 2025Article
- An integrated approach to predict genetic risk for Mosquito-Borne diseases in the local Population of Tehsil Haripur, Khyber Pakhtunkhwa, Pakistan.Scientific reports · 2025Article
- Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali.Genetics in medicine open · 2025Article
- A holistic approach to maximise diagnostic output in trio exome sequencing.Frontiers in pediatrics · 2023Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- Prospect of genetic disorders in Saudi Arabia.Frontiers in genetics · 2023Article
- DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning.Bioinformatics (Oxford, England) · 2022Article
- Predicting candidate genes from phenotypes, functions and anatomical site of expression.Bioinformatics (Oxford, England) · 2021Article
- Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.Genome medicine · 2021Article
- Article
- Common disease-associated gene variants in a Saudi Arabian population.Annals of Saudi medicineArticle
Corrections and comments
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Authors and funding
29 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundTesting 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.
methodsThree 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.
resultsThe 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.
conclusionThere 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.