October Webinar | Fabric GEM - Fabric Genomics

Brent Lutz


Accelerating Your NGS Workflow for Rare Disease Diagnosis With Fabric GEM

A novel AI-tool for near-instant identification of disease causing variants

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Fabric Genomics, the leader in algorithmic genome interpretation, is making available a powerful new algorithm, Fabric GEM, which sets new standards in diagnostic speed and accuracy. In this webinar, Francisco De La Vega and Jeanette McCarthy will discuss how Fabric GEM simultaneously analyzes multiple diverse inputs including structural variants, patient phenotypes, variant burden, and clinical reference data to nominate a short list of candidate diagnostic conditions, unlocking higher diagnosis rates and less effort than any alternative on the market. In addition to introducing the platform, Drs. De La Vega and McCarthy will describe how Fabric GEM integration into your NGS interpretation workflow can streamline interpretation, improve your team’s throughput, and increase diagnostic rates. 

Key Features of Fabric GEM

  • Near-instant identification of mendelian diagnostic conditions
  • Consistently reduces clinical review
  • Robust to common sequencing artifacts and cryptic ancestry
  • Considers ancestry, consanguinity and inheritance mode
  • Takes advantage of automated deep phenotyping


Francisco De La Vega headshot

Francisco De La Vega, PhD, Chief Scientific Officer

Francisco is a geneticist and computational biologist with interests in clinical and population genomics. After spending over a decade at Applied Biosystems/Life Technologies, where he played a pivotal role in the development of several successful genetic analysis products, he has more recently contributed to start-up companies in focused on bringing NGS into the clinic. Francisco is Adjunct Professor in the Department of Biomedical Data Science of the Stanford School of Medicine, a Director of the International Society of Computational Biology, and has been a member of the NIST Genome-in-a-Bottle Consortium, the PanCancer Analysis of Whole Genomes project of the ICGC, and the Steering Committee of the 1000 Genomes Project. In 2009 he was inducted to the Innovation & Invention Society of Life Technologies, a program that recognized the company’s most elite inventors, and in 2008 was a co-recipient of the Bio-IT World Best Practices Award in Basic Research. Francisco received his Doctor of Science degree in Genetics and Molecular Biology from CINVESTAV, the leading research and post-graduate education institution of Mexico.

Jeanette McCarthy, MPH, PhD headshot, round

Jeanette McCarthy, MPH, PhD, Senior Director Scientific Programs

Jeanette McCarthy is a genome scientist and educator working at the forefront of precision medicine implementation. As a faculty member at Duke University, she ran research programs on genetic underpinnings of complex diseases, both infectious and chronic. In 2013 she founded Precision Medicine Advisors, an education and consulting business focused on communicating genomics to non-technical audiences, including health care providers, patients and other stakeholders. Jeanette has worked with Fabric Genomics since 2013 on the development of software for genome analysis and variant interpretation and currently leads scientific programs and clinical services. Jeanette is coauthor of the book, Precision Medicine: A Guide to Genomics in Clinical Practice (2016, McGraw Hill Education).

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