Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Year: 2018
Type: article
Abstract: OBJECTIVE: Interpreting whole-exome sequencing (WES) data are challenging, requiring extensive time, and effort to review all the variants in the variant call format. Here, we examined the application of custom filters to narrow the number of candidate variants in a consanguineous population that requires further analysis. METHODS: In 100 cases undergoing WES, we applied a custom filtration process to look primarily for homozygous variants in autosomal recessive (AR) disorders, and second for variants in either autosomal dominant or x-linked disorders. RESULTS: Most identified disease-causing variants were homozygous in AR disorders. By applying our custom filtration process, we narrowed the number of candidate variants requiring further analysis to 5-15 per case while maintaining a high detection rate and completing analysis in around 45 min. CONCLUSION: A custom filtration process and strategy targeting a specific population provide excellent detection rates in less time and should be considered as a first-tier laboratory workflow for analysis.
Source: Europe PMC (PubMed Central)
Author: Ahmed A Alfares
Institution: Qassim University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2890526535