Germline variant interpretation requires clinical scientists to move from thousands of candidate variants to a handful of clinically meaningful findings, and then to locate, reconcile, and recheck the evidence supporting each one. This is time-consuming, and it is time taken away from clinical judgment.

In this webinar, Gencell, a leading clinical genomics laboratory in Colombia, will present real, de-identified cases from routine diagnostics. Using AI-based variant prioritization (DiagAI), the team will discuss how ranking candidate variants affected the identification of positive cases, how sensitivity held up across cases, and where the approach fit into their interpretation workflow.

The session will then turn to the evidence side of interpretation. The presenters will describe how AI-powered tools within a genomic intelligence framework can support clinical scientists in retrieving, scoring, and reviewing the literature relevant to a variant and a patient’s phenotype. This includes LitFinder, a literature retrieval approach that draws on multiple publication sources and returns a short list of relevant papers with transparent, explainable relevance scores.

Attendees will gain a practical, case-based view of how AI-assisted prioritization and evidence retrieval can fit into a diagnostic workflow so that scientists can spend more of their time on judgment and less on searching and rechecking.

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Speakers

  • Marcela Gálvez Bermúdez, MD, MSc — Medical Director, Gencell
    Marcela Gálvez Bermúdez is a medical geneticist and medical director for Latin America at Gencell, a leading clinical genomics laboratory in Colombia and one of Latin America’s largest sequencing centers, a role she has held since 2015. She previously served as president of the Colombian Association of Human Genetics (ACGH, 2023-2025) and spent nearly a decade as a medical geneticist at Hospital Universitario Mayor-Méderi alongside clinical and academic roles at Fundación Cardioinfantil and Universidad del Rosario.
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  • Thibaut Benquey — Clinical Product Manager, Genomic Intelligence, SeqOne
    Thibaut Benquey is clinical product manager for genomic intelligence at SeqOne, where he brings his clinical and laboratory expertise to the design of genomic interpretation solutions. A medical biologist by training, he previously worked at GCS AURAGEN, part of the French National Genomic Medicine Plan, on genomic diagnostics for rare diseases. Earlier in his career, he was a molecular biologist at Eurofins Biomnis and a university hospital assistant at Hospices Civils de Lyon. He holds a medical degree from Toulouse Purpan and a master’s in molecular biology from Université Claude Bernard Lyon 1.
  • Victoria Hewitt, DipRCPath, PgDip, HCPC — Director of Clinical Science and Interpretation Services, SeqOne
    Victoria Hewitt is director of clinical science and interpretation services at SeqOne, where she leads clinical science and genomic interpretation. An HCPC-registered clinical scientist and diplomate of the Royal College of Pathologists, she has more than 18 years of experience in clinical diagnostics, spanning cytogenetics, molecular genomics and cancer genetics. She previously held leadership roles at Nonacus Clinical Services and Congenica, and began her career at Leeds Teaching Hospitals NHS Trust.