Draft:Atlas of Variant Effects Alliance
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The Atlas of Variant Effects Alliance (AVE), founded in 2020, is an international collaborative aiming to catalog the impact of all possible genetic variants for disease-related functional elements[1]. The goal of the Alliance is to create a comprehensive atlas, a collection of variant effect maps, for important regions of human and human pathogen genomes that could ultimately assist in the diagnosis, prognosis, and treatment of disease[2]. Variant effect maps are built using multiplexed assays of variant effect (MAVEs), a family of methods that involve mutagenesis of a DNA-encoded protein or regulatory element followed by a multiplexed assay for some aspect of function[3][4]. The findings, materials, and resources generated by the Alliance are freely available to the research community.[5][6][7][8]
Organization[edit]
AVE was founded and is operated at the Department of Genome Sciences at University of Washington, Seattle, USA and the Brotman Baty Institute[6]. The AVE alliance is composed of researchers, technologists, analysts, clinicians, patients and funders from over 100 institutions and 39 countries. AVE is funded in part through the Brotman Baty Institute and the National Human Genome Research Institute, via funding from the Center of Excellence in Genome Science grant (NHGRI RM1HG010461).
Activities[edit]
AVE organizes an international annual meeting, the Mutational Scanning Symposium. AVE also hosts a monthly seminar series.
AVE work streams[9][edit]
- Clinical Variant Interpretation
- Data Coordination and Dissemination
- Experimental Technology and Standards
- Analysis, Modeling, and Prediction
References[edit]
- ^ "Atlas of Variant Effects Alliance". Research Organization Registry.
- ^ "Article collection: Towards an atlas of variant effects". Biomed Central. July 3, 2023.
- ^ Gasperini, Molly; Starita, Lea; Shendure, Jay (2016). "The Power of Multiplexed Functional Analysis of Genetic Variants". Nature Protocols. doi:10.1038/nprot.2016.135.
- ^ Kinney, Justin; MkCandlish, David (2019). "Massively Parallel Assays and Quantitative Sequence–Function Relationships". Annual Review of Genomics and Human Genetics. doi:10.1146/annurev-genom-083118-014845.
- ^ Fowler, Douglas M.; Adams, David J.; Gloyn, Anna L.; Hahn, William C.; Marks, Debora S.; Muffley, Lara A.; Neal, James T.; Roth, Frederick P.; Rubin, Alan F.; Starita, Lea M.; Hurles, Matthew E. (2023-07-03). "An Atlas of Variant Effects to understand the genome at nucleotide resolution". Genome Biology. 24 (1): 147. doi:10.1186/s13059-023-02986-x. ISSN 1474-760X. PMC 10316620. PMID 37394429.
- ^ a b "Scientists Launch 'Herculean' Project Creating Atlas of Human Genome Variants | Brotman Baty Institute". brotmanbaty.org. Retrieved 2024-02-05.
- ^ "Mapping the effects of genetic variation, one letter at a time". Broad Institute. 2021-10-13. Retrieved 2024-02-05.
- ^ "Building an atlas of gene variants to understand health and disease". Wellcome Connecting Science Courses and Conferences. Retrieved 2024-02-05.
- ^ "Workstreams". Atlas of Variant Effects Alliance. Retrieved 2024-02-05.
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