MaveRegistry: a collaboration platform for multiplexed assays of variant effect

Da Kuang; Jochen Weile; Nishka Kishore; Maria Nguyen; Alan F Rubin; Stanley Fields; Douglas M Fowler; Frederick P Roth

doi:10.1093/bioinformatics/btab215

MaveRegistry: a collaboration platform for multiplexed assays of variant effect

Bioinformatics. 2021 Oct 11;37(19):3382-3383. doi: 10.1093/bioinformatics/btab215.

Authors

Da Kuang^{1

2

3

4}, Jochen Weile^{1

2

3

4}, Nishka Kishore^{1

2

3

4}, Maria Nguyen^{1

2

3

4}, Alan F Rubin^{5

6}, Stanley Fields^{7

8}, Douglas M Fowler^{7

9}, Frederick P Roth^{1

2

3

4}

Affiliations

¹ Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
² Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
³ Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
⁴ Department of Computer Science, University of Toronto, Toronto, ON M5T 3A1, Canada.
⁵ Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
⁶ Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia.
⁷ Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
⁸ Department of Medicine, University of Washington, Seattle, WA 98195, USA.
⁹ Department of Bioengineering, University of Washington, Seattle, WA 98105, USA.

Abstract

Summary: Multiplexed assays of variant effect (MAVEs) are capable of experimentally testing all possible single nucleotide or amino acid variants in selected genomic regions, generating 'variant effect maps', which provide biochemical insight and functional evidence to enable more rapid and accurate clinical interpretation of human variation. Because the international community applying MAVE approaches is growing rapidly, we developed the online MaveRegistry platform to catalyze collaboration, reduce redundant efforts, allow stakeholders to nominate targets and enable tracking and sharing of progress on ongoing MAVE projects.

Availability and implementation: MaveRegistry service: https://registry.varianteffect.org. MaveRegistry source code: https://github.com/kvnkuang/maveregistry-front-end.

Abstract

Grants and funding