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

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) will present 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

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