WEScover: selection between clinical whole exome sequencing and gene panel testing

Area of Science:

• Genomic Medicine
• Bioinformatics

Background:

• Whole exome sequencing (WES) is a common tool in clinical genetics and research.
• A key limitation of WES is potential false negatives from incomplete exon coverage in critical genes.
• Targeted gene panel testing can confirm true negatives for variants in known disease genes.

Purpose of the Study:

• To develop a web-based tool, WEScover, for assessing WES coverage of clinically relevant genes.
• To help researchers and clinicians decide between WES and targeted gene panels to minimize false negatives.

Main Methods:

• Developed WEScover, a web application with an intuitive interface.
• Integrated population-scale WES datasets and the Genome Aggregation Database.
• Enabled searching by phenotype, gene panel, or individual gene.

Main Results:

• WEScover provides a gene-centric view of WES coverage breadth and depth.
• The tool allows users to query coverage for specific genes and phenotypes.
• It identifies genes with potentially incomplete WES coverage.

Conclusions:

• WEScover enables efficient evaluation of WES exon coverage for genes of interest.
• The tool recommends targeted gene panel testing when WES coverage is insufficient.
• WEScover aids in minimizing false negatives in genomic variant detection.