Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate

摘要

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.