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REVA as A Well-curated Database for Human Expression-modulating Variants

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...

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Detalles Bibliográficos
Autores principales: Wang, Yu, Shi, Fang-Yuan, Liang, Yu, Gao, Ge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040024/
https://www.ncbi.nlm.nih.gov/pubmed/34224878
http://dx.doi.org/10.1016/j.gpb.2021.06.001
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author Wang, Yu
Shi, Fang-Yuan
Liang, Yu
Gao, Ge
author_facet Wang, Yu
Shi, Fang-Yuan
Liang, Yu
Gao, Ge
author_sort Wang, Yu
collection PubMed
description 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.
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spelling pubmed-90400242022-04-27 REVA as A Well-curated Database for Human Expression-modulating Variants Wang, Yu Shi, Fang-Yuan Liang, Yu Gao, Ge Genomics Proteomics Bioinformatics Database 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. Elsevier 2021-08 2021-07-03 /pmc/articles/PMC9040024/ /pubmed/34224878 http://dx.doi.org/10.1016/j.gpb.2021.06.001 Text en © 2021 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Database
Wang, Yu
Shi, Fang-Yuan
Liang, Yu
Gao, Ge
REVA as A Well-curated Database for Human Expression-modulating Variants
title REVA as A Well-curated Database for Human Expression-modulating Variants
title_full REVA as A Well-curated Database for Human Expression-modulating Variants
title_fullStr REVA as A Well-curated Database for Human Expression-modulating Variants
title_full_unstemmed REVA as A Well-curated Database for Human Expression-modulating Variants
title_short REVA as A Well-curated Database for Human Expression-modulating Variants
title_sort reva as a well-curated database for human expression-modulating variants
topic Database
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040024/
https://www.ncbi.nlm.nih.gov/pubmed/34224878
http://dx.doi.org/10.1016/j.gpb.2021.06.001
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