Published May 15, 2025
| Version v1
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Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance
Creators
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Fowler, Douglas
(Project leader)1, 2, 3
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Adams, David
(Editor)4
-
Ahituv, Nadav
(Editor)5
-
Bock, Christoph
(Editor)6, 7, 8
-
bolognesi, benedetta
(Editor)9
-
Chanock, Stephen
(Editor)
- Cheng, Jun (Editor)10
-
Cho, Judy
(Editor)11
-
Davis, Melissa
(Editor)12, 13
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del Angel, Guillermo
(Editor)
-
Doench, John
(Editor)
-
Ellingford, Jamie
(Editor)14
- Estrada, Karol (Editor)15
- Kyle Fahr, Kyle (Editor)16
-
Fayer, Shawn
(Editor)1
-
Gallego Romero, Irene
(Editor)17, 18
-
Glazer, Andrew
(Editor)19
-
Huangfu, Danwei
(Editor)20, 21
-
Landrum, Melissa
(Editor)22
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Lehner, Ben
(Editor)4
-
Lossie, Amy
(Editor)
-
Martin, Maria-Jesus
(Editor)23
-
Massart, Mylynda
(Editor)24
-
Nelson, Stefanie
(Editor)25
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O'Donnell-Luria, Anne
(Editor)26, 27
-
Parikh, Victoria
(Editor)28
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Pesaran, Tina
(Editor)29
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Posey, Jennifer
(Editor)30
-
Powell, Bradford
(Editor)31
-
Roden, Dan
(Editor)19
-
Rubin, Alan
(Editor)13
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Semple, Robert Kenneth
(Editor)32, 33
-
Simola, Daniel
(Editor)34
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Singh, Harinder
(Editor)35
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Starita, Lea
(Editor)1, 2
-
Tejura, Malvika
(Editor)1
-
Vockley, Jerry
(Editor)24, 36, 37
-
Wagner, Alex
(Editor)38, 39, 40
-
Won, Hyejung
(Editor)25
-
Birney, Ewan
(Editor)41, 42
-
Cool, Jonah
(Editor)
-
Hurles, Matthew
(Editor)4
-
Hutter, Carolyn
(Editor)43
-
Muffley, Lara
(Editor)2, 3, 1
-
Rehm, Heidi L.
(Editor)44
-
Roth, Frederick
(Editor)45, 46, 24
-
1.
University of Washington
-
2.
Brotman Baty Institute
-
3.
Atlas of Variant Effects Alliance
- 4. Wellcome Sanger Institute
-
5.
University of California, San Francisco
-
6.
Medical University of Vienna
-
7.
CeMM Research Center for Molecular Medicine
- 8. Biomedical Sequencing Facility (BSF) of CeMM and MedUni Vienna
-
9.
Institute for Bioengineering of Catalonia
- 10. GoogleDeepMInd
- 11. Icahn School of Medicine at Mount Sinai
-
12.
University of Adelaide
-
13.
Walter and Eliza Hall Institute of Medical Research
-
14.
University of Manchester
- 15. MAZE therapeutics
- 16. Illumina
-
17.
St. Vincent's Hospital
-
18.
University of Tartu
- 19. Vanderbilt University Medical Center
- 20. Memorial Sloan Kettering Cancer Center
- 21. Cornell University, Weill Cornell Graduate School of Medical Sciences
-
22.
National Institutes of Health
-
23.
European Bioinformatics Institute
-
24.
University of Pittsburgh
-
25.
University of North Carolina at Chapel Hill
- 26. Broad Institute of MIT and Harvard
-
27.
Boston Children's Hospital
-
28.
Stanford University
-
29.
Ambry Genetics (United States)
- 30. Baylor College of Medicine
- 31. University of North Carolina
-
32.
NHS Lothian
-
33.
University of Edinburgh
-
34.
GlaxoSmithKline (United States)
- 35. The Directorate General of Shipping, India
-
36.
University of Pittsburgh School of Medicine
- 37. University of Pittsburgh Graduate School of Public Health
- 38. Nationwide Children's Hospital
- 39. The Ohio State University College of Medicine
-
40.
Washington University in St. Louis
- 41. EMBL
- 42. EMBL-EBI
- 43. NHGRI
-
44.
Broad Institute
- 45. Sinai Health
- 46. University of Toronto
Description
At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering genomic medicine by resolving VUS.
This document crystallizes infrastructure, technology development, data production and clinical translation efforts that CLAVE meeting attendees concluded are needed to produce a maximally useful draft 2030 atlas.
Files
CLAVE 2030 Roadmap.pdf
Files
(1.3 MB)
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Additional details
Additional titles
- Subtitle
- CLAVE 2030 Roadmap
Related works
- Continues
- Report: 10.5281/zenodo.13900940 (DOI)
Funding
- National Human Genome Research Institute
- Center For The Multiplexed Assessment Of Phenotype_Centers of Excellence in Genomic Science (CEGS) RM1 HG010461
- National Human Genome Research Institute
- Center for Actionable Variant Analysis (CAVA)_ Impact of Genomic Variation on Function (IGVF) Consortium UM1 HG011969
- National Human Genome Research Institute
- Molecular phenotyping group_Impact of Genomic Variation on Function (IGVF) Consortium UM1 HG011989
- Chan Zuckerberg Initiative (United States)
- Chan Zuckerberg Initiative donor-advised fund (DAF)
- Silicon Valley Community Foundation
- Silicon Valley Community Foundation (Chan Zuckerberg Initiative DAF)