REVA as A Well-curated Database for Human Expression-modulating Variants.
Ontology highlight
ABSTRACT:
SUBMITTER: Wang Y
PROVIDER: S-EPMC9040024 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Publications
REVA as A Well-curated Database for Human Expression-modulating Variants.
Wang Yu Y Shi Fang-Yuan FY Liang Yu Y Gao Ge G
Genomics, proteomics & bioinformatics 20210703 4
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 li ...[more]
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