GWAS Catalog
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 2019-09-24
- 4220 publications
- 107486 SNPs
- 157336 associations
- Genome assembly GRCh38.p12
- dbSNP Build 151
- Ensembl Build 96
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
说是数据库，其实就是一个table，从这里下载，不过100MB
表里面有这些数据：
DATE ADDED TO CATALOG* +: Date a study is published in the catalog
PUBMEDID* +: PubMed identification number
FIRST AUTHOR* +: Last name and initials of first author
DATE* +: Publication date (online (epub) date if available)
JOURNAL* +: Abbreviated journal name
LINK* +: PubMed URL
STUDY* +: Title of paper
DISEASE/TRAIT* +: Disease or trait examined in study
INITIAL SAMPLE DESCRIPTION* +: Sample size and ancestry description for stage 1 of GWAS (summing across multiple Stage 1 populations, if applicable)
REPLICATION SAMPLE DESCRIPTION* +: Sample size and ancestry description for subsequent replication(