State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Biomedical Pioneering Innovation Center (BIOPIC) & Beijing Advanced Innovation Center for Genomics (ICG), Center for Bioinformatics (CBI), Peking University, Beijing 100871, China.
Human Aging Research Institute, School of Life Sciences, Nanchang University, Nanchang 330031, China.
Genomics Proteomics Bioinformatics. 2021 Aug;19(4):590-601. doi: 10.1016/j.gpb.2021.06.001. Epub 2021 Jul 3.
More than 90% of disease- and trait-associated human variants are noncoding. By systematically screening multiple large-scale studies, we compiled REVA, a manually curated database for over 11.8 million experimentally tested noncoding variants with expression-modulating potentials. We provided 2424 functional annotations that could be used to pinpoint the plausible regulatory mechanism of these variants. We further benchmarked multiple state-of-the-art computational tools and found that their limited sensitivity remains a serious challenge for effective large-scale analysis. REVA provides high-quality experimentally tested expression-modulating variants with extensive functional annotations, which will be useful for users in the noncoding variant community. REVA is freely available at http://reva.gao-lab.org.
超过 90%的疾病和特征相关的人类变异是非编码的。通过系统地筛选多个大规模研究，我们编制了 REVA，这是一个手动整理的数据库，包含超过 1180 万个具有表达调节潜力的经过实验测试的非编码变异。我们提供了 2424 个功能注释，可以用来确定这些变异的可能的调控机制。我们进一步对多种最先进的计算工具进行了基准测试，发现它们有限的敏感性仍然是大规模有效分析的一个严重挑战。REVA 提供了高质量的经过实验测试的表达调节变异，具有广泛的功能注释，这将对非编码变异社区的用户有用。REVA 可在 http://reva.gao-lab.org 免费获得。
