The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations
Open accessAbstract
Summary: PhenoScanner is a curated database of publicly available results from large-scale genetic association studies in humans. This online tool facilitates ‘phenome scans’, where genetic variants are cross-referenced for association with many phenotypes of different types. Here we present a major update of PhenoScanner (‘PhenoScanner V2’), including over 150 million genetic variants and more than 65 billion associations (compared to 350 million associations in PhenoScanner V1) with diseases and traits, gene expression, metabolite and protein levels, and epigenetic markers. The query options have been extended to include searches by genes, genomic regions and phenotypes, as well as for genetic variants. All variants are positionally annotated using the Variant Effect Predictor and the phenotypes are mapped to Experimental Factor Ontology terms. Linkage disequilibrium statistics from the 1000 Genomes project can be used to search for phenotype associations with proxy variants. Availability and implementation: PhenoScanner V2 is available at www.phenoscanner.medschl.cam.ac.uk.
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A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
GENCODE: The reference human genome annotation for The ENCODE Project
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GTEx Consortium (2017) · Nature · doi:10.1038/nature24277 · Cited by 4,036
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Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Kasela, S., et al. (2018) · doi:10.1101/447367 · Cited by 2,607
Genomic atlas of the human plasma proteome
Sun, B. B., Maranville, J. C., Peters, J. E., Stacey, D., Staley, J. R., Blackshaw, J., Burgess, S., Jiang, T., Paige, E., Surendran, P., et al. (2018) · Nature · doi:10.1038/s41586-018-0175-2 · Cited by 2,268
Self-citationPhenoScanner: a database of human genotype-phenotype associations.
Staley, J. R., Blackshaw, J., Kamat, M. A., Ellis, S., Surendran, P., Sun, B. B., Paul, D. S., Freitag, D., Burgess, S., Danesh, J., et al. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw373 · Cited by 1,479
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Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkac1010 · Cited by 1,641
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., et al. (2021) · Science · doi:10.1126/science.abf7117 · Cited by 702
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
Kerimov, N., Hayhurst, J. D., Peikova, K., Manning, J. R., Walter, P., Kolberg, L., Samoviča, M., Sakthivel, M. P., Kuzmin, I., Trevanion, S. J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00924-w · Cited by 440
Kar, S. P., Quiros, P. M., Gu, M., Jiang, T., Mitchell, J., Langdon, R., Iyer, V., Barcena, C., Vijayabaskar, M. S., Fabre, M. A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01121-z · Cited by 377
Self-citationHarper, A. R., Goel, A., Grace, C., Thomson, K. L., Petersen, S. E., Xu, X., Waring, A., Ormondroyd, E., Kramer, C. M., Ho, C. Y., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00764-0 · Cited by 353
Metadata
- Authors
- Kamat, M. A., Blackshaw, J. A., Young, R., Surendran, P., Burgess, S., Danesh, J., Butterworth, A. S., & Staley, J. R.
- Venue
- Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-06-24
- Volume
- 35
- Issue
- 22
- Pages
- 4851-4853
- ISSN
- 1367-4803 (ISSN-L)
- 1367-4811
- OpenAlex
- W2955177623
- Cited by
- 2,155
- References
- 6
- FWCI
- 62.03
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Kamat, M. A., Blackshaw, J. A., Young, R., Surendran, P., Burgess, S., Danesh, J., Butterworth, A. S., & Staley, J. R. (2019). PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations. Bioinformatics. https://doi.org/10.1093/bioinformatics/btz469
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