Latest Events

9th Annual Mutational Scanning Symposium 2026

25 March 2026

Event jointly organized by: AVE and St Vincent's Institute of Medical Research
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)
7th Annual Mutational Scanning Symposium 2024

22 May 2024

Our 7th Annual Mutational Scanning Symposium will be held at the Broad Institute in Cambridge Massachusetts May 22-24th, 2024

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Latest News

AVE Alliance Working Group Developing International Guidelines for Genetic Variant Classification

29 August 2025

New working group developing more definitive guidelines for genetic variant classification.
MSS 2024 Debrief: ‘I Ended Up Attending Every Talk and Gained Valuable Insights from the Poster Sessions’

9 June 2025

BBI’s Shawn Fayer and Noelia Ferruz Capapey, a Group Leader at the Centre for Genomic Regulation in Barcelona, reflect on the 8th annual Mutational Scanning Symposium.
Researchers Offer Guidelines for Variant Effect Predictors

30 May 2025

Field of VEPs has grown rapidly, without clear standards

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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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