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- W3131102045 abstract "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." @default.
- W3131102045 created "2021-03-01" @default.
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- W3131102045 date "2021-08-01" @default.
- W3131102045 modified "2023-09-26" @default.
- W3131102045 title "REVA as A Well-curated Database for Human Expression-modulating Variants" @default.
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- W3131102045 doi "https://doi.org/10.1016/j.gpb.2021.06.001" @default.
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