Recent News

Variant effect predictors: AVE's resource expands into non-coding territory

7 October 2026

AVE's Analysis, Modelling and Prediction (AMP) workstream has recently delivered a major expansion of one of its most-used tools: a resource cataloguing computational models for predicting variant effects. Previously covering coding variants, the resource now also covers non-coding predictors, an area of interest which is growing rapidly. We spoke to Prof. Joe Marsh (Institute of Genetics and Cancer, University of Edinburgh) about how the resource was developed, what makes non-coding predictors so different from their coding counterparts, and whether VEPs will ever replace deep mutational scanning.

Ben Livesey (left) and Tesni Walsh (right); members of the Marsh group at the Institute of Genetics and Cancer, University of Edinburgh.

Variant Effects Seminar Series: past, present and future

13 July 2026

Recently, the Variant Effect Seminar Series (VESS) marked its 100th speaker. As we look to next 100, we chat with two of its original presenters, Mafalda Dias and Jonathan Frazer. Discover how VESS has influenced their journey, their connection to the 100th speaker, Ezequiel Galpern, and what’s next for them.

Early VESS pioneers Jonathan Frazer (left) and Mafalda Dias (right) are Group Leaders of the Probabilistic machine learning and genomics lab at the Centre for Genomic Regulation (CRG) in Barcelona.

Life after VESS: Two VESS Committee members share their insights as they rotate off the team

6 July 2026

As the Variant Effects Seminar Series marks its 100th speaker, two long-standing members of the organizing team are stepping back. We caught up with them to find out about their time on the committee and what’s coming next for them.

Priyanka Bajaj (left) and Ohanna Bezerra (right)

Keeping the tradition going: Rebeca Olvera León, on her hopes for MSS 2027

25 June 2026

For Rebeca Olvera León, the Mutational Scanning Symposium is becoming something of a habit. This year marked her fourth consecutive MSS, although her first as a PhD student. We caught up with her after the MSS 2027 announcement to get her insights into the most recent meeting and find out what she is excited for in 2027.

Variant Effects Seminar Series Celebrates Milestone: 100th Presenter Since 2021

27 April 2026

Nearly five years of consistent programming, a growing global community, and an enduring commitment to open science’, the Variant Effects Seminar Series (VESS), hosted online each month by the Atlas of Variant Affects (AVE) Alliance, will celebrate a milestone in June: its 100th presenter since it was launched in 2021.

Q&A with Dr. Maitreya Dunham: Reflecting on MSS 2026 and Looking Ahead to the Future of Genome Science

7 April 2026

Dr. Maitreya Dunham: 'I would tell my younger self to appreciate your mentors and take them for all they’re worth, or you will miss them when they’re gone. But you can still have echoes of their impact through yourself.'

MSS 2026 Wrap Up: ‘Comprehensive Overview of Where the Field is Heading, with Cutting-edge Technological Advances’

1 April 2026

Lorenzo Vaccaro, a postdoctoral researcher at the Telethon Institute of Genetics and Medicine, offers observations and insights about the conference.

Q&A with Ambry Genetics’ VP on Sponsoring 2026 Mutational Scanning Symposium

25 March 2026

Success is the widespread integration of MAVE evidence to reduce the rate of VUS.

How an MD-PhD Student With Hemophilia Made a Genetic Research Breakthrough

11 March 2026

Popp, 34, is now a graduate of the University of Washington School of Medicine’s MD-PhD degree program and a pathology resident at Mass General Brigham in Boston. While at UW, he helped develop a new technology with Doug Fowler, PhD, a researcher in the UW School of Medicine’s Department of Genome Sciences, and Jill Johnsen, MD, a researcher in the Division of Hematology and Oncology and a hematologist at UW Medicine, to decode one of the genes that causes hemophilia and find all the possible variants in it.

MSS 2026: Bryony Thompson Offers Perspective of Clinical Scientist in a Diagnostic Laboratory

26 February 2026

Thompson is one of the featured presenters at the Ninth Annual Mutational Scanning Symposium, March 25 through 27 in Melbourne, Australia

We're pleased to share our 2025 Annual Report!

29 January 2026

It's been an incredible year for our community. We've grown to over 800 members from 58 countries, generated more than 7 million variant effect measurements across 700+ genes in human and model organisms, and made real progress toward a Clinical Atlas of Variant Effects.

Professor Yang Jianrong on MSS 2026: ‘Eager to Learn about Creative Uses of Deep Mutational Scanning’

20 January 2026

Professor Yang Jianrong, a researcher and professor at with Sun Yat-sen University in Guangzhou, China, is a confirmed speaker at the upcoming Ninth Annual Mutational Scanning Symposium, March 25-27, in Melbourne, Australia.

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.

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.

Registration and Call for Abstracts Open for 2026 Mutational Scanning Symposium

1 October 2025

This conference has become a cornerstone event helping to lead the academic study and clinical application of genomics.

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

IBEC co-organised the leading international symposium on mutational scanning

27 May 2025

More than 300 people attended the eighth Mutational Scanning Symposium, which took place from 21 to 23 May at the Barcelona Biomedical Research Park. The symposium is a key event for discussing the latest advances in mutational scanning technologies and Multiplex Assays of Variant Effects. This year, the symposium was co-organised by the Institute for Bioengineering of Catalonia, the Centre for Genomic Regulation, and the international Atlas of Variant Effects initiative.

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).

MSS 2025 Update: BioMarin Sponsorship Aims to Drive Progress in Development of Therapies for Rare Diseases

10 April 2025

‘The science in the field of genetic variants is moving really fast and the Mutational Scanning Symposium offers great opportunities to stay connected with other institutions and colleagues at its forefront.’

A person in a green shirt with crossed arms stands in a modern office with cubicles and large windows.

Spotlight on MSS 2025: Lindorff-Larsen to Address Symposium on Interface Between Variant Effects and Interpretation

7 April 2025

Kresten Lindorff-Larsen, one of the speakers at the 2025 Mutational Scanning Symposium, discusses his upcoming presentation and his background.

The image shows a man outdoors with a serene body of water in the background. He is smiling slightly and looking directly at the camera. The sky behind him is partially cloudy with a soft, warm sunset glow, casting gentle reflections on the water. He is wearing a plain, dark blue t-shirt and has his arms crossed. The overall ambiance of the image is calm and peaceful.

AVE Alliance Annual Report Chronicles Endeavors to ‘Profoundly Impact Human Health’

21 February 2025

The Atlas of Variant Effects Alliance has chosen “gratitude” as the theme for its 2024 Annual Report and for good reason.

Q and A with Dr. David Adams on MSS 2025

20 February 2025

Dr. David Adams, founding member of the Atlas of Variant Effects Alliance, will be a featured speaker at the Eighth Annual 2025 Mutational Scanning Symposium, May 21 to 23, in Barcelona.

Mapping Genetic Variants and Their Ties to Disease

13 February 2025

Accelerating discoveries: UW Medicine and the Brotman Baty Institute lead a worldwide effort; Scientists are on track to map 1,000 genes by 2030; and Patients and families are already seeing benefits.

The image shows two individuals wearing white lab coats working in a laboratory. They are seated at a cleanroom workbench with transparent protective glass. The environment appears clean and organized, with soft lighting enhancing the focus on the activity inside the workbench.

Revolutionizing Variant Curation with MAVEs

24 January 2025

We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs).

Revolutionizing Variant Curation with MAVEs

MSS 2025 Speakers will Offer Perspectives on AI, Bioengineering, and Other Topics

5 November 2024

A dozen experts on subjects, ranging from computational biology to bioengineering to AI, have been confirmed for the Eighth Annual Mutational Scanning Symposium, May 21st through 23rd in Barcelona, Spain.

Researchers, Clinicians, Funders Create Roadmap for Clinical Atlas of Variant Effects by 2030

21 October 2024

‘Tight integration of AI and experiments needed to optimize allocation of resources and deliver high-quality variant effect information’

Lead Organizers Offer Insights into Planning for 8th Annual Mutational Scanning Symposium

17 October 2024

The 8th annual Mutational Scanning Symposium will be held in Barcelona, Spain, May 21-23, at the Barcelona Biomedical Research Park

Interview with Julia Foreman (DECIPHER) -There is so much potential in the reclassification of variants’

19 August 2024

Even before making strides in human genetic variant interpretation, Dr. Julia Foreman, Ph.D., always enjoyed studying the effects of mutations. “Genetics is fascinating, particularly developmental genetics,” she proclaims.

Gene editing innovation to improve genome variant exploration

14 August 2024

The haploid cell line HAP1 LIG4 KO has been modified to be highly efficient for CRISPR-based experiments by researchers at the Wellcome Sanger Institute. Available via Revvity to both academic and industry researchers, the cell line has been used to greatly increase gene editing rates in Saturation Genome Editing (SGE) experiments to assess variant effects at scale, with many other applications possible.

Gene editing innovation to improve genome variant exploration

Thousands of high-risk cancer gene variants identified

15 July 2024

Researchers have mapped the exact variants in a gene that dramatically increase a person’s risk of developing several types of cancer. This could lead to improved early detection and targeted treatment across diverse populations.

Dermatologist examining moles of patient in clinic

MSS 2024: Recap and Observations from Sumaiya Iqbal and Doug Fowler

31 May 2024

BBI's Dr. Doug Fowler and Dr. Sumaiya Iqbal of the Broad Institute reflect on the 2024 Mutational Scanning Symposium and offer suggestions for the 2025 event

Q&A with Drs. Heidi Rehm and Vijay Sankaran, Keynote Speakers at the 2024 Mutational Scanning Symposium

17 April 2024

Advancing genomic medicine through global collaboration

Q&A with JT Neal on Planning for the 2024 Mutational Scanning Symposium

7 March 2024

J.T. Neal, Ph.D., of the Broad Institute of MIT and Harvard, is leading the planning and organization for the 2024 Mutational Scanning Symposium.

Unparalleled Opportunity to Hear from Leaders on New Trends in Computational Science, Genomics, and Precision Medicine

15 February 2024

Seventh Annual Mutational Scanning Symposium Set for May 22 – 24 at Broad Institute

Reflecting on a Year of ‘Unprecedented Progress’

17 January 2024

Highlights from the Atlas of Variant Effects Alliance’s 2023 Annual Report

Nine billion and counting - Mapping the human variants and their effects on health and disease

16 January 2024

The Atlas of Variant Effects Alliance celebrates its fourth year this month. A collaboration of multiple institutes, including the Wellcome Sanger Institute, the Alliance has the aim of assessing the effects of all variants in our genomes. In this blog, we highlight the Alliance’s achievements and the diverse community underpinning such a colossal effort.

Nine billion and counting - Mapping the human variants and their effects on health and disease

Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed

6 December 2023

Scientists have created the first extensive map showing how all possible genetic changes can affect health in the gene DDX3X, leading to valuable insights into the underlying mechanisms of neurodevelopmental disorders and cancer.

Building an atlas of gene variants to understand health and disease

27 August 2023

Mutational scanning technologies are revolutionising the way we understand human genetic variation. A symposium in July brought together researchers from over 50 countries to explore the possibilities of this incipient genomic method, and how it can benefit clinicians and patients.

Exploring variant effects to advance precision medicine

1 August 2023

Dr Sounak Sahu is a postdoctoral fellow at the National Cancer Institute (NCI), National Institutes of Health (NIH), USA and his research focuses on the development of Multiplexed Assays for Variant effects (MAVE) for breast cancer susceptibility genes.

Following Up on MSS 2023: Perspectives from Two Participants

28 July 2023

The 6th annual Mutational Scanning Symposium was held July 13 and 14 in the UK. Drs. Raghavan Varadarajan, a biophysicist and professor at the Indian Institute of Science, and Yann Ilboudo, a research associate at McGill University, offer their reflections

refget v2.0 links the hidden dictionaries of DNA

17 July 2023

GA4GH blog Jul 2023

Collection of Alex Cagan Illustrations from the Symposium

14 July 2023

The live sketches by @ATJCagan from the second and final day of #VariantEffect23

What to Expect at the MSS 2023

23 June 2023

A Q&A with Keynote Speaker Dr. Frederick (Fritz) Roth

MSS 2023 Planners Explore Expected Symposium Highlights and Opportunities

23 May 2023

Drs. Clare Turnbull of The Institute of Cancer Research in the UK and David Adams of the Wellcome Sanger Institute in the UK serve on the Scientific Program Committee for the 2023 Mutational Scanning Symposium, July 13 and 14.