2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-A Streamlined Workflow for CNVs Analysis on Whole-Exome Sequencing

Video Transcription

Video Summary

In this video, David Schlesinger, a product manager at Sophia Genetics, introduces two speakers: Dr. Clay Morrison from Twist Bioscience and Dr. Emily Paul from Sophia Genetics. Dr. Morrison discusses the uniformity and performance of Twist's capture technology, which is well-suited for CNV analysis on whole exome sequencing. He explains how Twist's DNA synthesis process generates high-quality oligonucleotides on a silicon array, resulting in excellent coverage over target regions of interest. He also highlights the benefits of Twist's target enrichment system, including exceptional performance, flexibility in panel customization, and maximizing sequencing efficiency. Dr. Paul then discusses how Sophia Genetics' platform, SOFIA, can analyze the data generated by Twist's exome sequencing. She explains the challenges of analyzing whole exome sequencing data and the importance of sensitive CNV detection. She describes SOFIA's ability to detect and filter copy number variations, as well as other types of variants, using advanced analytical performance. The video concludes by highlighting the collaborative potential between Twist and Sophia Genetics in providing comprehensive and efficient genomic solutions. No credits were given in the transcript.

Asset Subtitle

SOPHiA Genetics

Keywords

Twist Bioscience

CNV analysis

whole exome sequencing

target enrichment system

SOFIA

collaborative potential