Latest Events

9th Annual Mutational Scanning Symposium 2026

25 March 2026

Event jointly organized by: AVE and St Vincent's Institute of Medical Research
Fireside Chat

6 January 2026

Please join us for a special Fireside chat on January 6th, 2026
8th Annual Mutational Scanning Symposium 2025

21 May 2025

Event jointly organized by : Institute for Bioengineering of Catalunya (IBEC) and Centre for Genomic Regulation (CRG)

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Latest News

Study Links Genetic Variants to Higher "Bad" Cholesterol and Heart Attack Risk

30 October 2025

An international team led by a University of Pittsburgh School of Medicine scientist has created a first-of-its-kind resource to identify those with a genetic risk for elevated “bad” cholesterol—a major contributor to heart disease. Published in Science on Oct. 30, 2025, this resource can assist clinicians in predicting patient risk for heart attacks, allowing time for prevention and early treatment. 
Study Links Genetic Variants to Higher 'Bad' Cholesterol and Heart Attack Risk

30 October 2025

An international team led by a University of Pittsburgh School of Medicine scientist has created a first-of-its-kind resource to identify those with a genetic risk for elevated ‘bad’ cholesterol -- a major contributor to heart disease. 
Q&A on the 2026 Mutational Scanning Symposium in Melbourne

17 October 2025

There has been such a growing trajectory in this field; there is no other meeting like this one.

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Latest Podcast Episodes

Season 1 Episode 6: “Biocuration: from Evidence to Classification" with Drs Heidi Rehm and Courtney Thaxton

30 June 2025

Who do you ask if you have a question about a gene? In this episode, we dive into the teams and scientists that are building an encyclopedia of knowledge about your genes.

Transcript and show notes can be found here.

Season 1 Episode 5: “Deep Thought” with Drs Debora Marks and Joe Marsh

23 March 2025

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

In this episode we explain the challenges and the promises of variant effect predictors (VEPs)

with experts Dr Debbie Marks and Dr Joe Marsh

Season 1 Episode 4: “Live from the Mutational Scanning Symposium”

8 November 2024

In this bonus episode, we interview scientists at the 7th Annual Mutational Scanning Symposium which took place May 22-24, 2024 at the Broad Institute. Here we chat about the future of this field, funny lab experiences, and how people got interested in variant interpretation. (We want to thank Dr. Buchser, Dr. Cagiada, Dr. Deyell, Dr. Kinney, Mr. Smith, and everybody else at MSS2024 for their participation.)

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Latest Seminars

Buffering and non-monotonic behavior of gene dosage response curves for human complex traits

4 November 2025

Nikhil is a graduate student in the Pritchard lab at Stanford University. He is interested in statistical and population genetics, and is exploring the relationship between gene expression and complex traits during his PhD.

Understanding GPCRs with massive mutagenesis

2 December 2025

Taylor grew up in Illinois on the banks of the Mississippi River. He did the PhD in Brian O’Roak’s lab in Portland, Oregon, where he studied mutational effects on the cancer and autism risk gene, PTEN. For postdoctoral work, he moved to Ben Lehner’s lab in Barcelona, where he has focussed on developing and deploying massive mutagenesis platforms for understanding expression and function of GPCRs, the most important family of drug targets.

Towards predictive models of variant effects on protein abundance (by learning from mutational scanning on different proteins)

2 December 2025

Thea did her PhD research in the Lindorff-Larsen lab at the University of Copenhagen. Her research focuses on explaining and predicting which missense variants are likely to change the cellular abundance of a protein. Concretely, she combines data from abundance MAVEs (VAMP-seq) on several proteins to study the cellular abundance of variants across protein backgrounds. Thea's talk will focus on what can be learned from such large-scale analyses, discuss why it can be difficult to combine variant scores from several...more

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