Variant Interpretation Challenges & Use Cases | Leveraging Mastermind in the Clinical Lab

Tuesday, July13, 2021 | 11am EDT

Clinical exome sequencing can result in a large number of genetic variants requiring interpretation. For a single patient, assessment of these variants can take between 6 and 8 hours (Machini et al., 2019). The extensive prioritization, evidence curation, annotation, and documentation of these variants can be incredibly time-consuming, and represent a major bottleneck in exome analysis workflow. This challenge is further compounded by the complexity and heterogeneity of nomenclatures used to describe diseases, genes, and genetic variants when searching for relevant information to inform clinical decision-making.

In this webinar, Dr. Dan Bellissimo, Director of the Clinical Genomics Laboratory at the University of Pittsburgh Medical Center (UPMC) presents a variety of clinical cases and workflows that illustrate how these variant interpretation challenges have been addressed by the Mastermind Genomic Search Engine to reduce turnaround time, increase diagnostic yield, and accelerate throughput.

You will learn about:

  • How UPMC is using Mastermind every day, with examples from real-world clinical cases
  • How to quickly and efficiently find relevant literature needed to interpret patient variants and CNVs
  • How to continuously monitor VUSs and Likely Pathogenic variants to stay up to date on the latest research

EVENT SPEAKERS

Dan Bellissimo bio circle_350x350
Dr. Dan Bellissimo
Director of the Clinical Genomics Laboratory, UPMC

Dan received his B.S. in biochemistry at the University of Wisconsin-Madison and his Ph.D. in biochemistry from Duke University. In 1999, he completed a ABMGG fellowship in clinical molecular genetics at the University of Wisconsin. He was at the Blood Center of Wisconsin for 23 years, where he led product development and molecular diagnostic testing, and he is currently at the University of Pittsburgh as the Director of the Clinical Genomics Laboratory and Associate Professor of obstetrics, gynecology, and reproductive sciences. Dan has over 20 years of experience as a clinical lab director, and is responsible for development, review, and reporting of clinical genetic test results.

Dr. Mark Kiel
Co-founder and Chief Science Officer, Genomenon
Mark completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, and is the Co-founder and CSO of Genomenon, where he supervises scientific direction of the Mastermind suite of software tools.