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PhenoScanner：一个人类基因型-表型关联数据库。

PhenoScanner: a database of human genotype-phenotype associations.

作者信息

Staley James R, Blackshaw James, Kamat Mihir A, Ellis Steve, Surendran Praveen, Sun Benjamin B, Paul Dirk S, Freitag Daniel, Burgess Stephen, Danesh John, Young Robin, Butterworth Adam S

机构信息

Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK NIHR Blood and Transplant Research Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

出版信息

Bioinformatics. 2016 Oct 15;32(20):3207-3209. doi: 10.1093/bioinformatics/btw373. Epub 2016 Jun 17.

DOI:10.1093/bioinformatics/btw373
PMID:27318201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5048068/
Abstract

UNLABELLED

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.

摘要

未标注

PhenoScanner是一个经过整理的数据库，收录了大规模基因关联研究的公开可用结果。该工具旨在促进“表型扫描”，即基因变异与多种表型的交叉引用，以帮助理解疾病途径和生物学。该数据库目前包含超过3.5亿个关联结果和超过1000万个独特的基因变异，其中大部分是单核苷酸多态性。它还附带了一个基于网络的工具，可查询数据库中与用户指定变异相关的关联信息，并根据每个输入变异的相同效应和非效应等位基因提供结果。该工具提供了搜索与输入变异的代理性状关联的选项，这些代理是使用来自千人基因组计划和Hapmap的欧洲样本计算得出的。

可用性与实现

PhenoScanner可在www.phenoscanner.medschl.cam.ac.uk获取。联系方式：jrs95@medschl.cam.ac.uk。补充信息：补充数据可在《生物信息学》在线获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69fc/5048068/0cfdcb10cdf1/btw373f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69fc/5048068/0cfdcb10cdf1/btw373f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69fc/5048068/0cfdcb10cdf1/btw373f1p.jpg

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本文引用的文献

1
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Lancet Diabetes Endocrinol. 2015 Apr;3(4):243-53. doi: 10.1016/S2213-8587(15)00034-0. Epub 2015 Feb 26.
2
SNiPA: an interactive, genetic variant-centered annotation browser.SNiPA：一个交互式的、以基因变异为中心的注释浏览器。
Bioinformatics. 2015 Apr 15;31(8):1334-6. doi: 10.1093/bioinformatics/btu779. Epub 2014 Nov 26.
3
GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database.
类风湿性关节炎的解码：通过生物信息学和孟德尔随机化进行生物标志物识别和免疫谱分析。
Medicine (Baltimore). 2025 Aug 22;104(34):e43872. doi: 10.1097/MD.0000000000043872.
4
Causal association between different types of ametropia and risk of diabetic retinopathy: a two-sample Mendelian randomization study.不同类型屈光不正与糖尿病视网膜病变风险之间的因果关联：一项两样本孟德尔随机化研究
BMJ Open Ophthalmol. 2025 Aug 24;10(1):e001909. doi: 10.1136/bmjophth-2024-001909.
5
Inflammation biomarkers mediate causal inference of the effect of skin microbiota on the risk of allergic diseases.炎症生物标志物介导了皮肤微生物群对过敏性疾病风险影响的因果推断。
AMB Express. 2025 Aug 12;15(1):116. doi: 10.1186/s13568-025-01924-3.
6
Early menarche and childbirth accelerate aging-related outcomes and age-related diseases: Evidence for antagonistic pleiotropy in humans.初潮过早和分娩过早会加速与衰老相关的结果及与年龄相关的疾病：人类拮抗多效性的证据。
Elife. 2025 Aug 12;13:RP102447. doi: 10.7554/eLife.102447.
7
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Sci Rep. 2025 Aug 1;15(1):28093. doi: 10.1038/s41598-025-12054-y.
8
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9
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4
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5
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Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632.
6
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