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Variants and Us (VUS) Podcast

By: Variants and Us podcast
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  • Summary

  • We focus on the basic and translational science necessary to map the effect of variants in disease and rare disease.
    Variants and Us podcast
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Episodes
  • Variant Effect What?

    Variant Effect What?
    May 16 2024

    All mutations compatible with life already exists, how do we interpret all of these variants?

    In this episode we explain the field of large-scale testing of variants and the Atlas of Variant Effects Alliance (AVE) alliance.

    Full transcripts and references are available at: https://www.varianteffect.org/podcast


    We want to thank Dr. Fields, Dr. Costain and Dr. Fowler for the participation.


    This podcast is a series by the outreach group sponsored by the Atlas of Variant Effects Alliance. Made with love and care by Alex, Evelina, Kortni, Adrine and Moez. Music by Alan Diaz from @_fotorecords_

    Our first season runs the gamut from discussing the origins of disease-causing variants to artificial intelligence in genetics to understanding what it takes clinically to reclassify a Variant of Uncertain Significance (VUS) to either disease-causing or benign.

    This podcast focuses on a realistic portrayal of the basic and translational research behind rare diseases with the hope that it will lead to better patient care, but this podcast is not meant to be medical advice.
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    36 mins
Biological Sciences
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