A Comprehensive Clinical Exome Pipeline – Integrating CNV, AOH, and UPD Analyses for More Accurate Molecular Diagnoses
Date and Time: Thursday, June 25, 2020 11:00 am – 12:00 pm (PST)
Whole exome sequencing (WES) has been widely used as a molecular diagnostic tool in clinical settings. In addition to single nucleotide variations (SNVs), copy number variations (CNVs), and uniparental disomy (UPD) are genetic variants/events that can also cause genetic disorders. However, detecting of those variants may not be included in a routine pipeline. In addition, although CNVs are technically detectable by WES, the specificity of detection is relatively low, with many false positive signals confounding the interpretation and reporting of such variants.
In this webinar, Dr. Xia Wang from AiLife Diagnostics will discuss the important roles of CNV, AOH, and UPD underlying undiagnosed genetic diseases; explore the challenges to tackle different types of variants; and explore how the simultaneously detecting and confirming different types of variants can further increase the diagnostic accuracy and efficiency.
Clinical Molecular Geneticist, Co-Founder and Chief Diagnostic Officer @AiLife Diagnostics
Dr. Wang (PhD, FACMG) is the Co-Founder and Chief Diagnostic Officer of AiLife Diagnostics. He is an ABMGG board certified clinical molecular geneticist. He was the Assistant Professor at the Department of Human and Molecular Genetics at Baylor College of Medicine, and the Assistant Director at Baylor Genetics.