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REVA as A Well-curated Database for Human Expression-modulating Variants
Genomics, Proteomics & Bioinformatics ( IF 11.5 ) Pub Date : 2021-07-03 , DOI: 10.1016/j.gpb.2021.06.001
Yu Wang 1 , Fang-Yuan Shi 1 , Yu Liang 2 , Ge Gao 1
Affiliation  

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.



中文翻译:

REVA 作为人类表达调节变体精心策划的数据库

超过 90% 的与疾病和性状相关的人类变异是非编码的。通过系统筛选多项大规模研究,我们编译了 REVA,这是一个手动管理的数据库,包含超过 1180 万个经过实验测试的具有表达调节潜力的非编码变体。我们提供了 2424 个功能注释,可用于查明这些变体的合理调节机制。我们进一步对多种最先进的计算工具进行了基准测试,发现它们有限的灵敏度仍然是有效大规模分析的严峻挑战。REVA 提供经过实验测试的高质量表达调节变体具有广泛的功能注释,这将对非编码变体社区的用户有用。REVA 可在 http://reva.gao-lab.org 免费获得。

更新日期:2021-07-03
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