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MaveRegistry: a collaboration platform for multiplexed assays of variant effect.

Authors :
Kuang D
Weile J
Kishore N
Nguyen M
Rubin AF
Fields S
Fowler DM
Roth FP
Source :
Bioinformatics (Oxford, England) [Bioinformatics] 2021 Oct 11; Vol. 37 (19), pp. 3382-3383.
Publication Year :
2021

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.<br />Availability and Implementation: MaveRegistry service: https://registry.varianteffect.org. MaveRegistry source code: https://github.com/kvnkuang/maveregistry-front-end.<br /> (© The Author(s) 2021. Published by Oxford University Press.)

Details

Language :
English
ISSN :
1367-4811
Volume :
37
Issue :
19
Database :
MEDLINE
Journal :
Bioinformatics (Oxford, England)
Publication Type :
Academic Journal
Accession number :
33774657
Full Text :
https://doi.org/10.1093/bioinformatics/btab215