With less than three years of additional data, we more than doubled the number of human DMS datasets in this analysis, and it is likely that with projects like the Atlas of Variant Effects (www.varianteffect.org), the availability of such datasets, and their utility for protein variant interpretation, will explode.
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.
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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.
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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.
Read more about Study Links Genetic Variants to Higher 'Bad' Cholesterol and Heart Attack Risk
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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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.
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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.
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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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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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.’
7 April 2025
Kresten Lindorff-Larsen, one of the speakers at the 2025 Mutational Scanning Symposium, discusses his upcoming presentation and his background.
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.
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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.
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Revolutionizing Variant Curation with MAVEs
24 January 2025
We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (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.
Read more about MSS 2025 Speakers will Offer Perspectives on AI, Bioengineering, and Other Topics
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
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.
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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.
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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
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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.
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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
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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.
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.
Read more about Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed
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.
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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.
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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
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refget v2.0 links the hidden dictionaries of DNA
17 July 2023
GA4GH blog Jul 2023
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Collection of Alex Cagan Illustrations from the Symposium
14 July 2023
The live sketches by @ATJCagan from the second and final day of #VariantEffect23
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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.
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23 March 2023
Interview with Matthew Hurles, Head of the Human Genetics programme and incoming Director of the Wellcome Sanger Institute.
Looking Back and Charting the Course Ahead: AVE Alliance’s 2022 Annual Report
31 January 2023
The first annual report of the Atlas of Variant Effects Alliance, an international consortium of more than 400 geneticists, biologists, clinicians, mathematicians, and other scientists, outlines several highlights from 2022 and looks ahead to opportunities and challenges in 2023
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28 September 2022
GWord podcast with Prof Matthew Hurles
Q&A: Highlights of the 2022 Mutational Scanning Symposium
27 June 2022
Organizer Dr. Fritz Roth and keynote speakers Drs. Clare Turnbull and Doug Fowler offer their observations and insights of the event and suggestions for the 2023 symposium to be held in the U.K.
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27 May 2022
Atlas Variant Effects Alliance and interpreting human genetic variation with Clare Turnbull and Lea Starita
17 May 2022
Lead organizer of the 5th Annual Mutational Scanning Symposium, in-person and online, June 13 and 14 in Toronto
5th Annual Mutational Scanning Symposium Set for June in Toronto
28 April 2022
Symposium Lead Organizer Dr. Frederick Roth: “The promise of personalized medicine requires that we know how to interpret the impact of billions of genetic variants that already exist in humanity”
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The diagnostic odyssey: A journey into genetic testing for rare diseases
23 February 2022
Genetics Society Podcast) featuring Dr Joe Marsh: “Understanding the role of Variants of Unknown Significance in rare disease”
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27 October 2021
AI model EVE shows capacity to interpret meaning of human gene variants as benign or disease-causing
Looking Back and Projecting Ahead as AVE Celebrates One Year
21 October 2021
This October marks the one-year anniversary of the Atlas of Variant Effects (AVE) Alliance.
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Mapping the effects of genetic variation, one letter at a time
13 October 2021
A global project seeks to generate and analyze all possible variants of hundreds of protein-coding genes and learn how they might influence health and disease.
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U of T researchers to study effects of genetic variation on health
13 September 2021
Donnelly Centre researchers Frederick Roth and Mikko Taipaile will contribute to a joint study that examines how genetic variations affect disease risk and severity
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University of Washington awarded $16M for ‘third phase’ of human genome research
9 September 2021
University of Washington scientists will help decode how variations in DNA influence health and disease with $16 million in new funding.
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Understanding the functional consequences of every single mutation in Your Favourite Gene
1 September 2021
A central problem in genomic medicine is understanding the effects of individual DNA variants. Although their function can be explored in the lab, assessing variants individually is both time and resource intensive. Multiplexed Assays of Variant Effect (MAVEs) are a family of experimental techniques that allow researchers to measure all possible variants of a gene or other functional element at once.
Folate Deficiency Demystified – Why Some People May be at Greater Risk of Disease
1 July 2021
As many expectant mothers know, getting enough folate is key to avoiding neural tube defects in the baby during pregnancy. But for the individuals who carry certain genetic variants, dealing with folate deficiency can be a life-long struggle which can lead to serious neurological and heart problems and even death.
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Q&A with Dr. Xiaoyan “Isaac” Jia
21 April 2021
China-Based Scientist to Present at Upcoming Mutational Scanning Symposium
Scientists launch 'Herculean' project creating atlas of human genome variants
1 April 2021
An international consortium of geneticists, biologists, clinicians, mathematicians, and other scientists is determined to take the study of the human genome to the next level - creating a comprehensive atlas of genetic variants to advance the understanding, diagnosis, and treatment of disease.
Read more about Scientists launch 'Herculean' project creating atlas of human genome variants