Webinars
Improved Diagnostic Yield in Rare Hereditary Disorders - Meeting Clinical Needs Using Customized Whole Exome Sequencing Solutions
Apr 05, 2019
Webinar information
Date: 04.04.2019
Time: 12:30 PM PST
Duration: 30 min
Speaker: Kim Gall

Date: April 4, 2019
Time 12:30 PM PST

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
> Whole Exome Sequencing 

Speakers

Kim Gall

Kim Gall, MSc, CGC, received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Masters of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Kim 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: 07.13.2020