Mastermind Masterclass: New Gene Information Page

03:39 Introduction to Mastermind 3.0: Dan O'Hara, Product Manager, Mastermind
08:00 Key Concepts of the new Gene Information Page
10:09 Live demonstration of Mastermind 3.0: Denice Belandres, Field Application Scientist, Genomenon
11:23 • Classified Variants by Type - Genomenon and ClinVar
13:30 • Gene Summary Information
14:47 • Intrinsic Metrics for Application of ACMG Gene Wide Criteria
15:42 • Curated Gene Disease Relationships
16:55 • Variant Diagram Enhancements & Finding Curated Content
22:00 Mastermind 3.0: Variant Analysis Perspective: Betty Mathias, Project Manager, Genomenon
23:00 • Gene Summary
28:33 • Gene Disease Relationships (GDRs)
38: 06 • Intrinsic Metrics
43: 03 Q&A with the Mastermind Experts

With the move from panels to whole exome and whole genome sequencing (WES and WGS) comes incredible opportunities for precision medicine, but along with that opportunity comes a host of novel variants that make it a challenge to scale variant interpretation workflows. Genomic scientists need detailed gene-disease relationships, gene information, and data on other variants within the gene to quickly analyze these novel variants.

Mastermind’s new Gene Information Page puts comprehensive gene information and ACMG gene-wide parameters for variant interpretation at your fingertips. This builds on Mastermind’s comprehensive view of all published variants within a gene, so you can find the answers you need from just one platform. With the Mastermind 3.0 release, the Genomenon team is the first to curate the clinical exome at the gene level based on ClinGen guidelines, considered the highest industry standard. Now, you can see a holistic view of gene information for rapid decision-making, especially for exomes/genomes and large panels.

In this Masterclass, Clinical product manager Dan O’Hara, project manager Betty Mathias, and Mastermind expert Denice Belandres will walk you through the new Gene Information Page and answer your questions.

You will learn how to:
• Streamline workflows by rapidly triaging variants to focus on known disease-causing genes
• Quickly uncover and interpret novel variants with useful gene and variant summary information
• Identify more disease-causing variants by reviewing all prioritized relevant articles with variant- and gene-matches

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