REVA as A Well-curated Database for Human Expressionmodulating Variants  

作　　者：Yu Wang Fang-Yuan Shi Yu Liang Ge Gao 

机构地区：[1]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 [2]Human Aging Research Institute,School of Life Sciences,Nanchang University,Nanchang 330031.China

出　　处：《Genomics, Proteomics & Bioinformatics》2021年第4期590-601,共12页基因组蛋白质组与生物信息学报（英文版）

基　　金：supported by funds from the National Key R&D Program of China(Grant No.2016YFC0901603);the National High Technology Research and Development Program of China(Grant No.2015AA020108);the State Key Laboratory of Protein and Plant Gene Research and the Beijing Advanced Innovation Center for Genomics(ICG)at Peking University,China;supported in part by the National Program for Support of Top-notch Young Professionals;supported by the High-performance Computing Platform of Peking University。

摘　　要：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.

关 键 词：Noncoding variant Expression-modulating variant Massively parallel reporter assay DATABASE BENCHMARK 

分 类 号：R394[医药卫生—医学遗传学]