Blueprint Genetics’ Clinical Liaison Kim Gall (MSc, CGC, LGC) gave a talk on Improved Diagnostic Yield in Rare Hereditary Disorders and Meeting Clinical Needs Using Customized Whole Exome Sequencing Solutions at ACMG 2019. Find out about whole exome sequencing (WES) platforms and the customizations we have made in an effort to increase diagnostic yield.
“Small percentages in coverage of the target regions can have big implications for clinical practice”, Kim Gall says.
Blueprint Genetics’ Whole Exome Sequencing platform offers multiple improvements to standard WES analyses to ensure higher standards in quality and performance:
- Highly uniform sequencing depth across all protein-coding genes
- Mean sequencing coverage of 174x
- 99.4% of base pairs covered at 20x
- Seeded with additional oligos to detect non-coding disease-causing variants
- Superior CNV detection
- Increased coverage of difficult-to-sequence regions
- All diagnostic testing performed on a WES backbone allowing for customization and reflexing