10.5281/zenodo.4989960
https://zenodo.org/records/4989960
oai:zenodo.org:4989960
AVE Alliance Founding Members
AVE Alliance Founding Members
The Atlas of Variant Effects (AVE) Alliance: understanding genetic variation at nucleotide resolution
Zenodo
2021
Atlas of Variant Effects
Mutliplexed Assays of Variant Effect
Genomics
Genetics
Community
Fowler, Douglas M
Douglas M
Fowler
0000-0001-7614-1713
Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA
Hurles, Matthew
Matthew
Hurles
0000-0002-2333-7015
Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK
Adams, David J
David J
Adams
0000-0001-9490-0306
Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK
Gloyn, Anna L
Anna L
Gloyn
0000-0003-1205-1844
Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, CA, US
Hahn, William C
William C
Hahn
0000-0003-2840-9791
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA
Marks, Debora S
Debora S
Marks
0000-0001-9388-2281
Department of Systems Biology, Harvard Medical School; Broad Institute of MIT and Harvard, Cambridge, MA, USA
Neal, James T
James T
Neal
0000-0002-3962-8570
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Roth, Fritz
Fritz
Roth
0000-0002-6628-649X
Donnelly Centre and Departments of Molecular Genetics and Computer Science, University of Toronto, Toronto, ON, Canada; Lunenfeld - Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada
Rubin, Alan F
Alan F
Rubin
0000-0003-1474-605X
Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia
Starita, Lea M
Lea M
Starita
0000-0003-2870-5099
Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA
Weile, Jochen
Jochen
Weile
0000-0003-1628-9390
Donnelly Centre and Departments of Molecular Genetics and Computer Science, University of Toronto, Toronto, ON, Canada; Lunenfeld - Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada
2021-03-18
eng
10.5281/zenodo.4989959
4
Creative Commons Attribution 4.0 International
The Atlas of Variant Effects (AVE) Alliance is a new organization aimed at the systematic, massively-scaled measurement of the biological effect of genetic variation in human, model organism and pathogen genomes to generate an atlas of thousands of variant effect maps for individual genes and associated regulatory elements. The atlas will be transformative, improving the fundamental understanding of biological mechanisms, empowering drug development and advancing clinical diagnosis and disease management.
The Alliance will serve as a key forum to catalyse the assembly of this atlas by expanding the community of scientists who are developing and applying experimental and analytical technologies to generate variant effect maps, by supporting the community deploy resources wisely, and by establishing standards to ensure data are generated, managed and used responsibly and with maximum impact.
This document articulates our vision to generate this atlas of variant effects. We summarise the potential impacts that would be enabled by the atlas. We describe the current state of the field and make a set of recommendations to address key challenges. Finally, we set out the values and organising principles of the AVE Alliance, and invite interested academic and industry researchers, clinicians, funders and others to join.
Also available at https://www.varianteffect.org/white-paper