Blueprint Genetics Clinical Liaison Kim Gall, MSc, CGC, 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,” said Kim Gall.
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
Kim Gall, MSc, CGC, is Senior Manager of Genomic Services at Blueprint Genetics. She received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Master of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Ms. Gall worked in a variety of clinical and laboratory settings across Canada before accepting a position as clinical liaison at Blueprint Genetics in 2017.
Last modified: August 18, 2022
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