PDF(Pubmed)
Abstract：
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.
摘要：
提交给MaveDB的变体功能测定的大规模实验措施有可能为解决不确定意义的变体提供关键信息，但是报告与测定序列相关的结果阻碍了它们的下游效用。变异效应图谱联盟将变异效应数据的多重分析映射到人类参考序列，创建一组健壮的机器可读的同源性映射。这种方法在MaveDB中处理了大约250万个蛋白质和基因组变体，成功地映射98.61%的检查变体和传播数据的资源，如UCSC基因组浏览器和Ensembl变异效应预测。
