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

We’re thrilled to share a special episode drop from one of our podcast friends, Kira Dineen, and her multi award winning podcast, DNA Today! As a genetics podcast with over 12 years of groundbreaking episodes, DNA Today explores the latest in genetics and genomics through expert interviews and engaging discussions.

To celebrate the AVE alliance, this episode reflects on multiplexed assays for variant effects (MAVEs) and how they have the potential to solve the VUS problem. Joining Kira Dineen for this discussion are two founders of the AVE alliance: Dr. Doug Fowler and Dr. Lea Starita. To learn more about the AVE alliance and related efforts, please visit: https://www.varianteffect.org/about.

They discuss how MAVEs are revolutionizing the field of genetics, with real world applications in understanding genetic diseases. They also discuss ethics and practical considerations relating to genetic research.

As you’ve heard from our show, variants of uncertain significance pose a significant burden in the use of personal genomes in patient care. MAVEs allow the simultaneous testing of all possible variants in a disease gene and thus can be a powerful tool in our quest for providing answers for rare disease folks. Doing all of this is not an easy task given the thousands of disease genes in our genome. This is why they and others have founded this massive collaborative effort that we are also part of.

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.

“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.”

Have you ever wondered what it is like to be part of the AVE alliance working on solving the VUS problem?

In this episode, we interview scientists at the Mutational Scanning Symposium 2024 which took place at the Broad Institute. We chat about the future of this field, funny lab experiences, and how people got interested in variant interpretation.

The symposium united the leading experts of the field of variant genetics. Tackling the VUS problem requires a multidisciplinary approach - will you be the next one to make it happen?

We want to thank Dr. Buchser, Dr. Cagiada, Dr. Deyell, Dr. Kinney, Mr. Smith, and everybody else at MSS2024 for their 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.

No partnership was established in this episode.

#vuspodcast #genetics #raredisease #varianteffect #atlasofvarianteffects

“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.”