We can predict the weather, but can we predict genetic diseases from your genome?

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In this episode we explain the challenges and the promises of variant effect predictors (VEPs), these computational tools that explore genomic data and learn how to discriminate properties.

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Modern variant effect predictors use large-language models to categorize ‘spelling mistakes’ in your genome as benign or pathogenic.

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Some are metapredictors, they incorporate previous strategies to classify variants, others are trained using evolutionary data. And they are getting really good!

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These can supplement experimental results and help clinicians interpret novel variants. Some have been used to score all coding variants in the genome..But how much should we trust their predictions? Listen to this episode for some expert commentary from specialists in VEPs.

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We want to thank Dr. Marks and Dr. Marsh for their participation.

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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_⁠

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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..

#vuspodcast #genetics #raredisease #varianteffect #atlasofvarianteffects #varianteffectpredictors

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“Views expressed in the content are solely that of the author(s) and do not necessarily reflect the views of the Atlas of Variant Effects Alliance.”.

Full transcripts, show notes and references are available at:.

https://zenodo.org/communities/varianteffect/records?q=&l=list&p=1&s=10&sort=newest