Arbesfeld Jeremy A, Da Estelle Y, Stevenson James S, Kuzma Kori, Paul Anika, Farris Tierra, Capodanno Benjamin J, Grindstaff Sally B, Riehle Kevin, Saraiva-Agostinho Nuno, Safer Jordan F, Milosavljevic Aleksandar, Foreman Julia, Firth Helen V, Hunt Sarah E, Iqbal Sumaiya, Cline Melissa S, Rubin Alan F, Wagner Alex H
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
bioRxiv. 2024 Jun 30:2023.06.20.545702. doi: 10.1101/2023.06.20.545702.
The large-scale experimental measures of variant functional assays submitted to MaveDB have the potential to provide key information for resolving variants of uncertain significance, but the reporting of results relative to assayed sequence hinders their downstream utility. The Atlas of Variant Effects Alliance mapped multiplexed assays of variant effect data to human reference sequences, creating a robust set of machine-readable homology mappings. This method processed approximately 2.5 million protein and genomic variants in MaveDB, successfully mapping 98.61% of examined variants and disseminating data to resources such as the UCSC Genome Browser and Ensembl Variant Effect Predictor.
提交至MaveDB的大规模变异功能测定实验措施，有潜力为解决意义不明确的变异提供关键信息，但相对于测定序列的结果报告阻碍了它们的下游应用。变异效应图谱联盟将变异效应数据的多重测定映射到人类参考序列，创建了一组强大的机器可读同源映射。该方法处理了MaveDB中约250万个蛋白质和基因组变异，成功映射了98.61%的检测变异，并将数据传播到UCSC基因组浏览器和Ensembl变异效应预测器等资源。
