Mastermind 3.0: Finding a Comprehensive Catalog of Gene Disease Relationships with Britt Jones, PhD

Описание к видео Mastermind 3.0: Finding a Comprehensive Catalog of Gene Disease Relationships with Britt Jones, PhD

In this talk at the Mastermind User Group in Washington, D.C., Genomenon’s VP of Product Management and Customer Success, Brittnee Jones, PhD, discusses Genomenon's aim to take a big leap forward in the race to curate the human genome with the launch of Mastermind 3.0.

Genomenon is the first to curate the clinical exome at the gene level, providing a comprehensive catalog of gene-disease relationships, which accelerates novel variant curation, especially in large panels, whole exomes, and whole genomes. Mastermind’s new Gene Information Page puts comprehensive gene information and ACMG gene-wide parameters for interpretation of variants in large panels/whole exomes/genomes at your fingertips, so you can find the answers you need from just one platform. Our expert team is adding new curated variants to Mastermind every week, a constant heartbeat of provisional classifications you can trust (accompanied by the evidence), which saves valuable time for variant scientists.

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