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

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
New guidelines aim to improve transparency and trust in genetic prediction tools

30 April 2025

Researchers from the Institute of Genetics and Cancer have been working with the Atlas of Variant Effects Alliance to provide practical guidelines for releasing new computational tools known as variant effect predictors (VEPs).

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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

Saturation mapping of MUTYH variant effects using DNA repair reporters

7 October 2025

Shelby Hemker is a Postdoctoral Fellow at the University of Michigan and is funded by the American Cancer Society. Shelby's work in the Dr. Jacob Kitzman Laboratory has included development of a new functional assay to measure DNA damage repair by the adenine glycosylase MUTYH, of which the pre-print is available on bioRxiv. Other projects include assaying other DNA repair factors linked to inherited cancers. Shelby's previous research experiences include her PhD from the University of Pittsburgh, where she studied...more
Large-scale synthetic gene libraries for decoding variant effects in antibiotic resistance

7 October 2025

Karl Romanowicz is a Principal Scientist at SynPlexity and a Postdoctoral Scholar in the Plesa Lab in the Department of Bioengineering at the University of Oregon. His talk will highlight work recently published in Science Advances, where he and colleagues developed large-scale synthetic gene libraries and applied broad mutational scanning to decode variant effects in dihydrofolate reductase (DHFR), revealing how sequence variation drives antibiotic resistance across the protein family. He holds a PhD in Ecology and Evolutionary Biology from the...more
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.

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