Whole Exome Sequencing

Exome sequencing (WES) is a powerful sequencing tool widely used in research and diagnostics. Its purpose is to identify genetic aberrations such as single nuclear variants, deletions, insertions or copy number variants in the part of the genome composed of coding regions, or exons, which can change or truncate a protein sequence, potentially leading to non-functional proteins.
To achieve the highest level of quality, we selected the Twist Human Comprehensive Exome capture panel, the optimal WES solution by providing coverage of more than 99% of protein coding genes of the CCDS database.