4 Topic Commentaries

Rare Disease AI Puts Variants in Focus

Rare Disease AI Puts Variants in Focus

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  Debora Marks, PhD

  Computational genomics / systems biology

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  Harvard Medical School

  Our goal was to develop a model that ranks variants by disease severity — providing a prioritized, clinically meaningful view of a person’s genome.

  Source
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  Yi Xing, PhD

  Computational and genomic medicine / transcriptomics

  •

  Children’s Hospital of Philadelphia

  RNA is a powerful modality for the diagnosis of rare diseases.

  Source
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  Eric Klee, PhD

  Bioinformatics / genomic medicine

  •

  Mayo Clinic

  We're seeing dramatic growth in knowledge around what causes genetic disease, so we wanted to create a system to consistently track these discoveries.

  Source
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  Hyun-Hwan Jeong, PhD

  Pediatric neurology / AI-assisted variant interpretation

  •

  Baylor College of Medicine

  Identifying whether a particular genetic change or variant is harmful or an innocent bystander is crucial for diagnosing these conditions, but the process requires sifting through large amounts of data, a complex and time-consuming task.

  Source