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MaveRegistry: a collaboration platform for multiplexed assays of variant effect
bioRxiv - Bioinformatics Pub Date : 2020-10-14 , DOI: 10.1101/2020.10.14.339499
Da Kuang , Jochen Weile , Nishka Kishore , Alan F. Rubin , Stanley Fields , Douglas M. Fowler , Frederick P. Roth

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.

中文翻译:

MaveRegistry:一个协作平台,用于变异效应的多重分析

变异效应的多重检测(MAVE)能够在选定的基因组区域内实验测试所有可能的单核苷酸或氨基酸变异,生成“变异效应图”,从而提供生化洞察力和功能性证据,从而能够更快速,准确地对人类进行临床解释变异。由于应用MAVE方法的国际社会正在迅速发展,因此我们开发了在线MaveRegistry平台,以促进协作,减少多余的工作,允许利益相关者指定目标以及跟踪和共享正在进行的MAVE项目的进度。
更新日期:2020-10-16
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