MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
Abstract Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.org/ ) with four key improvements to the MAVE community’s database of record: more available data i...
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| Language: | English |
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BMC
2025-01-01
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| Series: | Genome Biology |
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| Online Access: | https://doi.org/10.1186/s13059-025-03476-y |
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| author | Alan F. Rubin Jeremy Stone Aisha Haley Bianchi Benjamin J. Capodanno Estelle Y. Da Mafalda Dias Daniel Esposito Jonathan Frazer Yunfan Fu Sally B. Grindstaff Matthew R. Harrington Iris Li Abbye E. McEwen Joseph K. Min Nick Moore Olivia G. Moscatelli Jesslyn Ong Polina V. Polunina Joshua E. Rollins Nathan J. Rollins Ashley E. Snyder Amy Tam Matthew J. Wakefield Shenyi Sunny Ye Lea M. Starita Vanessa L. Bryant Debora S. Marks Douglas M. Fowler |
| author_facet | Alan F. Rubin Jeremy Stone Aisha Haley Bianchi Benjamin J. Capodanno Estelle Y. Da Mafalda Dias Daniel Esposito Jonathan Frazer Yunfan Fu Sally B. Grindstaff Matthew R. Harrington Iris Li Abbye E. McEwen Joseph K. Min Nick Moore Olivia G. Moscatelli Jesslyn Ong Polina V. Polunina Joshua E. Rollins Nathan J. Rollins Ashley E. Snyder Amy Tam Matthew J. Wakefield Shenyi Sunny Ye Lea M. Starita Vanessa L. Bryant Debora S. Marks Douglas M. Fowler |
| author_sort | Alan F. Rubin |
| collection | DOAJ |
| description | Abstract Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.org/ ) with four key improvements to the MAVE community’s database of record: more available data including over 7 million variant effect measurements, an improved data model supporting assays such as saturation genome editing, new built-in exploration and visualization tools, and powerful APIs for data federation and streamlined submission and access. Together these changes support MaveDB’s role as a hub for the analysis and dissemination of MAVEs now and into the future. |
| format | Article |
| id | doaj-art-ba9a42dc87a94fe5934470d48abb6160 |
| institution | Kabale University |
| issn | 1474-760X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Genome Biology |
| spelling | doaj-art-ba9a42dc87a94fe5934470d48abb61602025-01-26T12:36:06ZengBMCGenome Biology1474-760X2025-01-0126111110.1186/s13059-025-03476-yMaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assaysAlan F. Rubin0Jeremy Stone1Aisha Haley Bianchi2Benjamin J. Capodanno3Estelle Y. Da4Mafalda Dias5Daniel Esposito6Jonathan Frazer7Yunfan Fu8Sally B. Grindstaff9Matthew R. Harrington10Iris Li11Abbye E. McEwen12Joseph K. Min13Nick Moore14Olivia G. Moscatelli15Jesslyn Ong16Polina V. Polunina17Joshua E. Rollins18Nathan J. Rollins19Ashley E. Snyder20Amy Tam21Matthew J. Wakefield22Shenyi Sunny Ye23Lea M. Starita24Vanessa L. Bryant25Debora S. Marks26Douglas M. Fowler27Bioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchBrotman Baty Institute for Precision MedicineDepartment of Genome Sciences, University of WashingtonBrotman Baty Institute for Precision MedicineBioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyBioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and TechnologyBioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchBrotman Baty Institute for Precision MedicineDepartment of Genome Sciences, University of WashingtonBioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchBrotman Baty Institute for Precision MedicineDepartment of Genome Sciences, University of WashingtonBioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchDepartment of Medical Biology, University of MelbourneImmunology Division, Walter and Eliza Hall Institute of Medical ResearchBioinformatics Group, Department of Computer Science, University of FreiburgDepartment of Computer Science, The Graduate Center, The City University of New YorkSeismic TherapeuticsBrotman Baty Institute for Precision MedicineDepartment of Systems Biology, Harvard Medical SchoolBioinformatics Division, Walter and Eliza Hall Institute of Medical ResearchDepartment of Genome Sciences, University of WashingtonBrotman Baty Institute for Precision MedicineDepartment of Medical Biology, University of MelbourneDepartment of Systems Biology, Harvard Medical SchoolBrotman Baty Institute for Precision MedicineAbstract Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.org/ ) with four key improvements to the MAVE community’s database of record: more available data including over 7 million variant effect measurements, an improved data model supporting assays such as saturation genome editing, new built-in exploration and visualization tools, and powerful APIs for data federation and streamlined submission and access. Together these changes support MaveDB’s role as a hub for the analysis and dissemination of MAVEs now and into the future.https://doi.org/10.1186/s13059-025-03476-yMultiplexed assays of variant effectMAVEsDeep mutational scanningDMSVariant classificationFunctional genomics |
| spellingShingle | Alan F. Rubin Jeremy Stone Aisha Haley Bianchi Benjamin J. Capodanno Estelle Y. Da Mafalda Dias Daniel Esposito Jonathan Frazer Yunfan Fu Sally B. Grindstaff Matthew R. Harrington Iris Li Abbye E. McEwen Joseph K. Min Nick Moore Olivia G. Moscatelli Jesslyn Ong Polina V. Polunina Joshua E. Rollins Nathan J. Rollins Ashley E. Snyder Amy Tam Matthew J. Wakefield Shenyi Sunny Ye Lea M. Starita Vanessa L. Bryant Debora S. Marks Douglas M. Fowler MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays Genome Biology Multiplexed assays of variant effect MAVEs Deep mutational scanning DMS Variant classification Functional genomics |
| title | MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays |
| title_full | MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays |
| title_fullStr | MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays |
| title_full_unstemmed | MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays |
| title_short | MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays |
| title_sort | mavedb 2024 a curated community database with over seven million variant effects from multiplexed functional assays |
| topic | Multiplexed assays of variant effect MAVEs Deep mutational scanning DMS Variant classification Functional genomics |
| url | https://doi.org/10.1186/s13059-025-03476-y |
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