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bioRxiv · 10.1101/2020.10.14.339499

MaveRegistry: a collaboration platform for multiplexed assays of variant effect

Kuang, D.·Weile, J.·Kishore, N.·Rubin, A. F.·Fields, S.·Fowler, D. M.·Roth, F. P.
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Abstract

SummaryMultiplexed 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 implementationhttps://registry.varianteffect.org Contactfritz.roth@utoronto.ca

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Kuang, D., Weile, J., Kishore, N., Rubin, A. F., Fields, S., Fowler, D. M., Roth, F. P.. 2020-10-14. MaveRegistry: a collaboration platform for multiplexed assays of variant effect. https://doi.org/10.1101/2020.10.14.339499

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