简介
The NHGRI-EBI Catalog of published genome-wide association studies
EBI负责维护的一个收集已发表的GWAS研究的数据库
Catalog stats
Last data release on 2021-11-05
5457 publications
190974 SNPs
318587 associations
Genome assembly GRCh38.p13
dbSNP Build 154
Ensembl Build 104
As of 2021-11-05, the GWAS Catalog contains 5457 publications and 318587 associations.GWAS Catalog data is currently mapped to Genome Assembly GRCh38.p13 and dbSNP Build 154.
基本的搜索方法
搜索表型：如breast carcinoma，会得到相关的非常规范的表型信息，EFO，就像GO一样，是一套表型分类规则。然后还会得到表型相关的基因。
搜索SNP：如rs7329174，会得到变异的详细信息，和对应的基因。
搜索人名：Yao，会得到相关的文献
搜索染色体位置：如2q37.1，Cytogenetic region
搜索基因：如HBS1L
搜索区域：如6:16000000-25000000
应用
通过官网，可以方便的检索，查询和下载对应的信息，常用的有以下3个模块
1. Search
可以根据以下多种条件进行检索
publications
variants
traits
genes
region
以突变位点rs7329174为例，检索结果包含了位点的染色体位置和对应基因，关联分析的详细结果，关联性状的描述，LD等信息。关联分析的结果示意如下
2. Diagram
以疾病为单位进行检索，查看每种疾病所有相关SNP位点的结果，示意如下
展示了所有关联的SNP位点在染色体上的分布，每个点代表一个study的结果，鼠标点击可以查看详细信息。
3. Download
下载关联分析的结果，提供了多种格式的结果供下载
通过该网站，可以方便的查询和下载已经发表的GWAS分析结果。（各版本解释见图下方标注）
File name conventions:
· v1.0 indicates the columns originally proposed by the NCBI
· v1.0.1 indicates the addition of ontology annotations, GWAS Catalog study accession numbers and other new columns (dismissed from 1 May 2018)
· v1.0.2 indicates the addition of ontology annotations, GWAS Catalog study accession numbers and other new columns such as genotyping technology
· v1.0.3 indicates the addition of unpublished data and additional trait information
· eXX indicates the Ensembl release version that the data is mapped to
· rYYYY-MM-DD indicates the date on which the GWAS Catalog was released
Older versions of the GWAS Catalog, with or without ontology annotations, can be found onour FTP server.
We are working to provide richer, fully customise-able downloads of GWAS data and these will be available soon.
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