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)

View all Events

Latest News

Two Organizers of the Variant Effects Seminars Share Observations and Insights

10 November 2025

We aim to strike a balance between theoretical, computational, and experimental approaches to ensure comprehensive coverage of the field.
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. 

View all News

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.)

View all Podcast Episodes

Latest Seminars

Equitable machine learning counteracts ancestral bias in cancer genomics

4 November 2025

Leslie Smith is a 5th year PhD student in the Computer Science department at the University of Florida. Her research focuses on the development of methods for addressing ascertainment bias in genomic datasets and disease modeling

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.

View all Seminars

Bluesky feed