PhenoScanner: a database of human genotype-phenotype associations.
Open accessAbstract
PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate 'phenome scans', the cross-referencing of genetic variants with many phenotypes, to help aid understanding of disease pathways and biology. The database currently contains over 350 million association results and over 10 million unique genetic variants, mostly single nucleotide polymorphisms. It is accompanied by a web-based tool that queries the database for associations with user-specified variants, providing results according to the same effect and non-effect alleles for each input variant. The tool provides the option of searching for trait associations with proxies of the input variants, calculated using the European samples from 1000 Genomes and Hapmap. AVAILABILITY AND IMPLEMENTATION: PhenoScanner is available at www.phenoscanner.medschl.cam.ac.uk CONTACT: jrs95@medschl.cam.ac.ukSupplementary information: Supplementary data are available at Bioinformatics online.
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Differences between the two samples in population characteristics such as age, sex, and socio-economic background can affect not only the interpretation of causal estimates, but also the validity of causal inferences.
“Alternatively, the two samples could differ substantially according to population characteristics such as age, sex, socio-economic background, and so on 32 . Such differences can affect not only the interpretation of causal estimates, but also the validity of causal inferences 33 .”
From Guidelines for performing Mendelian randomization investigations (2020) · cites this paper as [33]
If the genetic associations with the exposure vary over time, then Mendelian randomization estimates based on genetic associations with the exposure measured at a single timepoint can be unreliable.
“If the genetic associations with the exposure vary over time, then Mendelian randomization estimates based on genetic associations with the exposure measured at a single timepoint can be unreliable 33 .”
From Guidelines for performing Mendelian randomization investigations (2020) · cites this paper as [33]
As genetic variants typically affect usual levels of exposures on a long-term basis, Mendelian randomization estimates are often larger than those from conventional observational studies or randomized trials for the same magnitude of difference in the exposure.
“As genetic variants typically affect usual levels of exposures on a long-term basis, Mendelian randomization estimates are often larger than those from conventional observational studies or randomized trials for the same magnitude of difference in the exposure 33 .”
From Guidelines for performing Mendelian randomization investigations (2020) · cites this paper as [33]
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- Authors
- Staley, J. R., Blackshaw, J., Kamat, M. A., Ellis, S., Surendran, P., Sun, B. B., Paul, D. S., Freitag, D., Burgess, S., Danesh, J., Young, R., & Butterworth, A. S.
- Affiliations
- University of Cambridge (GB)
- Corresponding author
- Staley, James R.
- ORCID
- Venue
- Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-06-17
- Volume
- 32
- Issue
- 20
- Pages
- 3207-3209
- ISSN
- 1367-4803 (ISSN-L)
- 1367-4811
- PMC
- PMC5048068
- OpenAlex
- W2398690791
- Cited by
- 1,479
- References
- 10
- Citations by year
- 2026: 43 · 2025: 134 · 2024: 413 · 2023: 241 · 2022: 198 · 2021: 137 · 2020: 115 · 2019: 100 · 2018: 58 · 2017: 36 · 2016: 3 · 2015: 1
- FWCI
- 52.52
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Bioinformatics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
- Bristol Research (University of Bristol) (acceptedVersion, cc-by)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Pfizer (G73632)
- National Institute for Health and Care Research (NF-SI-0512-10165)
- British Heart Foundation (G0800270, SP/09/002, RG/13/13/30194, RG/08/014/24067)
- European Commission (279233)
- Medical Research Council (G66840, SP/09/002, G0800270, MR/L003120/1)
- NIHR Cambridge Biomedical Research Centre
- FP7 Ideas: European Research Council (268834)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- genotype-phenotype correlation, genetic association studies, single nucleotide polymorphisms, genetic variants, disease pathways, genetic proxies, 1000 Genomes Project, HapMap
- MeSH terms
- Genotype, Humans, Phenotype, Software, Genetic Variation, Databases, Factual, Polymorphism, Single Nucleotide, Genetic Association Studies
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