簡(jiǎn)介
The NHGRI-EBI Catalog of published genome-wide association studies
EBI負(fù)責(zé)維護(hù)的一個(gè)收集已發(fā)表的GWAS研究的數(shù)據(jù)庫(kù)
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秽褒，會(huì)得到相關(guān)的非常規(guī)范的表型信息渊抄，EFO，就像GO一樣跷睦，是一套表型分類(lèi)規(guī)則。然后還會(huì)得到表型相關(guān)的基因城侧。
搜索SNP：如rs7329174蹦误，會(huì)得到變異的詳細(xì)信息，和對(duì)應(yīng)的基因胚嘲。
搜索人名：Yao作儿，會(huì)得到相關(guān)的文獻(xiàn)
搜索染色體位置：如2q37.1，Cytogenetic region
搜索基因：如HBS1L
搜索區(qū)域：如6:16000000-25000000
應(yīng)用
通過(guò)官網(wǎng)馋劈，可以方便的檢索攻锰，查詢和下載對(duì)應(yīng)的信息晾嘶，常用的有以下3個(gè)模塊
1. Search
可以根據(jù)以下多種條件進(jìn)行檢索
publications
variants
traits
genes
region
以突變位點(diǎn)rs7329174為例，檢索結(jié)果包含了位點(diǎn)的染色體位置和對(duì)應(yīng)基因娶吞，關(guān)聯(lián)分析的詳細(xì)結(jié)果垒迂，關(guān)聯(lián)性狀的描述，LD等信息妒蛇。關(guān)聯(lián)分析的結(jié)果示意如下
2. Diagram
以疾病為單位進(jìn)行檢索机断，查看每種疾病所有相關(guān)SNP位點(diǎn)的結(jié)果，示意如下
展示了所有關(guān)聯(lián)的SNP位點(diǎn)在染色體上的分布绣夺，每個(gè)點(diǎn)代表一個(gè)study的結(jié)果吏奸，鼠標(biāo)點(diǎn)擊可以查看詳細(xì)信息。
3. Download
下載關(guān)聯(lián)分析的結(jié)果陶耍，提供了多種格式的結(jié)果供下載
通過(guò)該網(wǎng)站奋蔚，可以方便的查詢和下載已經(jīng)發(fā)表的GWAS分析結(jié)果。（各版本解釋見(jiàn)圖下方標(biāo)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· v1.0.3 indicates the addition of unpublished data and additional trait information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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