Fine-tuning CNV Analysis for the Clinical Analysis of NGS Samples

Abstract

Copy number variations (CNVs) are associated with a variety of genetic disorders including autoimmune diseases, autism, and cancer. VS-CNV gives clinicians and researchers the ability to detect both large and small CNV events, annotate them against a wide array of useful data sources, and perform filtering to obtain a small set of clinically relevant variations. In this webcast, we will discuss methods for adjusting algorithm sensitivity, leveraging CNV assessment catalogs, and excluding problematic CNV calls.

About the Presenter

Nathan Fortier

Nathan Fortier, Ph.D., joined the Golden Helix development team in June of 2014 and is a Senior Software Engineer and Field Application Scientist. Nathan obtained his Bachelor’s degree in Software Engineering from Montana Tech University in May 2011, received a Master’s degree in Computer Science from Montana State University in May 2014, and received his Ph.D. in Computer Science from Montana State University in May 2015. Nathan works on data curation, script development, and product code. When not working, Nathan enjoys hiking and playing music.