Ensuring high resolution CNV detection

Learn how the SOPHiA Platform and Twist Human Core Exome Kit provide a robust and sensitive solution for CNV detection

Date & Time

November 12, 2020 | 8 am PST (5pm CET)

Webinar Description

DNA copy number variations (CNVs) are a well-documented cause of human genetic disease. The detection of CNVs is challenging because analytical solutions must offer exon-level resolution for accurate results.

Whole exome sequencing (WES) is increasingly used to detect rare and common genetic variants in humans. However, larger data sets generated by WES further compound the challenges of CNV detection due to additional noise and biases introduced. For accurate detection of CNVs, a robust and sensitive solution is required.

In this webinar you will:
  • Learn how the advanced analytics of SOPHiA Platform has been combined with the high-quality Twist Exome enrichments kits to tackle the challenges of CNV detection in exome applications.
  • See how users maximize their sequencing efficiency and streamline their analyses.
  • Understand how the combined solution offers excellent coverage uniformity (even in GC-rich regions) and overcomes challenges associated with CNV detection to reach >90% sensitivity.
If you are interested in achieving higher detection rates and providing overall better support for the management of rare inherited diseases, this webinar is for you.

For Research Use Only. Not for use in diagnostic procedures.
SOPHiA GENETICS products are for Research Use and not for use in diagnostic procedures. The information included has been prepared for and is intended for viewing by a global audience. Information about products which may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please consult local sales representatives.
Webinar Registration

Emily Paul, PhD

Director of Subject Matter Experts, North America

Dr. Emily Paul is a molecular biologist with a specialty in genetics. She obtained her PhD at the State University of New York at Albany, and was subsequently a fellow at Wadsworth Center at the New York State Department of Health, the Boston Children's Hospital, Harvard Medical School and the Dana-Farber Cancer Institute. She joined SOPHiA GENETICS in 2017 as a Subject Matter Expert, and is now Director of the Subject Matter Experts team for North America.

Mark Consugar

NA NGS FAS Manager
Twist Bioscience

Mark Consugar is a master level scientist with more than 20 years of academic, clinical, diagnostic and translational research experience in inherited and somatic genetics with 10 years of NGS experience in WGS, WES, TE and Transcriptomics. He has been with Twist for three years as an NGS FAS and recently named the NA NGS FAS Manager.
©. All Rights Reserved Twist Bioscience.