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 the 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.

Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
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