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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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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. |
format | Online Article Text |
id | pubmed-9040024 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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