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 join Dr. Emily Paul, Director of Subject Matter Experts in North America at SOPHiA GENETICS, and Dr. Mark Consugar in Bioinformatics at Twist to...
Learn how the advanced analytics of the SOPHiA Platform has been combined with the high-quality Twist Exome enrichment kits to tackle the challenges of CNV detection in exome applications.
See how users maximize their sequencing efficiency and streamline their analyses.
Understand how these combined solutions offer excellent coverage uniformity (even in GC-rich regions) and overcome challenges associated with CNV detection to reach >90% sensitivity.
If you are interested in achieving higher detection rates and providing better support for the overall management of rare inherited diseases, don’t miss this webinar.
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.