MaveRegistry：一个用于变异效应多重检测的协作平台。
MaveRegistry: a collaboration platform for multiplexed assays of variant effect.
作者信息
Kuang Da, Weile Jochen, Kishore Nishka, Nguyen Maria, Rubin Alan F, Fields Stanley, Fowler Douglas M, Roth Frederick P
机构信息
Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
出版信息
Bioinformatics. 2021 Oct 11;37(19):3382-3383. doi: 10.1093/bioinformatics/btab215.
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.
摘要
变异效应多重分析（MAVEs）能够对选定基因组区域内所有可能的单核苷酸或氨基酸变异进行实验测试，生成“变异效应图谱”，为人类变异的更快速、准确临床解读提供生化见解和功能证据。由于应用MAVE方法的国际团体正在迅速壮大，我们开发了在线MaveRegistry平台，以促进合作、减少重复工作、让利益相关者提名目标，并实现对正在进行的MAVE项目进展的跟踪和共享。
可用性与实施
MaveRegistry服务：https://registry.varianteffect.org。MaveRegistry源代码：https://github.com/kvnkuang/maveregistry-front-end。
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