Over the last decade, whole-exome sequencing has emerged as a comprehensive and cost-effective tool for researching rare disease-causing variants, including copy number variants (CNVs). As a result, researchers can gain extensive, valuable information to manage complex mendelian disorder cases. However, efficient and precise analysis of CNVs remains challenging due to high levels of noise and biases, data heterogeneity and the “big data” nature of NGS data.

Researchers require high-quality enrichment kits and data analytics they can trust. Providing an end-to-end solution, Twist Human Comprehensive Exomes powered by SOPHiA DDM platform streamlines your workflow for accurate analyses of exome data to detect multiple variants, including hard-to-identify CNVs at an exon-level resolution.

This presentation from Dr. Emily Paul, Director of Subject Matter
Experts of the Americas at SOPHiA GENETICS, and Dr. Clayton Morrison, Field Applications Scientist at Twist Biosciences discusses:
-how the SOPHiA DDM platform in combination with the Twist Human Comprehensive Exomes can maximize your sequencing efficiency and improve your genomic interpretation;
-how these combined solutions offer very uniform coverage even in GC-rich regions) and overcome challenges associated with CNV analysis to reach >90% sensitivity*.

*Data on file. Results may vary.

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.
Emily Paul, PhD
Director of the Subject Matter Experts, Americas
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 the Americas.
Clay Morrison, PhD
Field Applications Specialist, NGS
Dr. Clay Morrison with Twist Bioscience received his Ph.D. in developmental biology in 2008 from Baylor College of Medicine in Houston. He began working in the next-generation sequencing field shortly thereafter as a Project Manager for a contract research organization. Clay has been with Twist since 2018 as a Field Applications Specialist focus on target enrichment.