“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. “ - Livesey & Marsh

AVE mentioned in recent news articles and in the media:

• Q&A with Drs. Heidi Rehm and Vijay Sankaran, Keynote Speakers at the 2024 Mutational Scanning Symposium - BBI News (April 2024)

• Q&A with JT Neal on Planning for the 2024 Mutational Scanning Symposium - BBI News (Mar 2024)

• Unparalleled Opportunity to Hear from Leaders on New Trends in Computational Science, Genomics, and Precision Medicine -BBI News (Feb 2024)

• Reflecting on a Year of ‘Unprecedented Progress’ - BBI News (Jan 2024)

• Nine billion and counting - Mapping the human variants and their effects on health and disease - Wellcome Sanger Institute Blog (Jan 2024)

• Map of disease-causing mutations in neurodevelopmental disorders and cancer revealed -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. - Sanger Communications (Dec 2023)

• Building an atlas of gene variants to understand health and disease - Wellcome Sanger Institute Blog - Summary from the 6th Annual Mutational Scanning Symposium

• Following Up on MSS 2023: Perspectives from Two Participants -Q&A with Drs. Raghavan Varadarajan and Yann Ilboudo.

• Exploring variant effects to advance precision medicine - Post workshop and symposium synopsis by Dr Sounak Sahu

• Collection of Alex Cagan Illustrations from the Symposium

• MSS 2023 Planners Explore Expected Symposium Highlights and Opportunities with Drs. Clare Turnbull and David Adams

• What to Expect at the MSS 2023 - Q&A with Keynote Dr. Frederick (Fritz) Roth

• Q&A with Dr. Xiaoyan “Isaac” Jia China-Based Scientist to Present at Upcoming Mutational Scanning Symposium

• refget v2.0 links the hidden dictionaries of DNA GA4GH blog Jul 2023

• New refget version improves reliability of genomic data analysis - Jul 2023

• The Sherlock Holmes moment - GWord podcast with Prof Matthew Hurles (transcript)

• Accidental Entrepreneur - Interview with Matthew Hurles, Head of the Human Genetics programme and incoming Director of the Wellcome Sanger Institute.

• The diagnostic odyssey: A journey into genetic testing for rare diseases (Genetics Society Podcast) featuring Dr Joe Marsh: “Understanding the role of Variants of Unknown Significance in rare disease”

• Looking Back and Charting the Course Ahead: AVE Alliance’s 2022 Annual Report

• Q&A: Highlights of the 2022 Mutual Scanning Symposium from the Meeting Organizer and Keynote Speakers

• Q&A with Dr. Frederick Roth (Lead organizer of the 5th Annual Mutational Scanning Symposium)

• GA4GH OmicsXchange Podcast: Atlas Variant Effects Alliance and interpreting human genetic variation with Clare Turnbull and Lea Starita

• 5th Annual Mutational Scanning Symposium Set for June in Toronto

• All About EVE 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

• Understanding the functional consequences of every mutation in Your Favourite Gene with Alan Rubin

• Mapping the effects of genetic variation, one letter at a time Broad Institute interview with JT Neal (Oct 2021)

• Folate Deficiency Demystified – Why Some People May be at Greater Risk of Disease

• Scientists launch 'Herculean' project creating atlas of human genome variants https://www.eurekalert.org/news-releases/800035

• University of Washington awarded $16M for ‘third phase’ of human genome research https://www.geekwire.com/2021/university-washington-awarded-16m-third-phase-human-genome-research/

• U of T researchers to study effects of genetic variation on health