Who do you ask if you have a question about a gene?

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In this episode we dive into the teams and scientists that are building an encyclopedia of knowledge about your genes.

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There are billions of us on the planet - and most of us want to know about ourselves. We can look, and we can do experiments, but individually, we can’t possibly learn everything. However, standing on the shoulder of giants, we can reach for the encyclopedia stored on the top shelf of the library.

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If a family member is affected by a disease and suddenly you see yourself in a geneticist’s office, what roads allowed scientists to pinpoint a variant, to classify it as pathogenic, to know it could cause disease? .Who does this invisible work?

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Biocurators! They are scientists that work tirelessly to accumulate and standardize all human knowledge about our genes. They look at the outcome of all experiments, and parse out the observations of doctors, patients, and much more. All of this work is to conclusively allow clinical geneticists to pin down the gene-disease relationship.

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One major outcome of this is that we can now look at human variation from large sequencing efforts in the context of disease, with millions of variants of uncertain significance being discovered so far..So what will your genetic counselor look up when you come in with the result of a genetic test? Probably one of the standardized tools discussed in this episode.

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We want to thank Dr. Thaxton and Dr. Rehm 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 ran 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. Stay tuned for the second season!.

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 #biocuration

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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 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_⁠

.

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.”