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.
Advantages
- Identification of variants in a wide range of applications (gene discovery in undiagnosed rare genetic diseases, cancer…).
- Complete coverage of coding regions.
- Superior sequencing depth of exome regions.
- Smaller and more manageable amount of data. Faster and simpler data analysis.
- Ideal solution when time and/or resources are limited.
Instruments
Illumina NextSeq 2000 or NovaSeq 6000
Materials
Blood, cells, circulating DNA, FFPE DNA (from 25 to 200ng of input).