How To Find All Gwas Studies That A Given Gene Has Been Implicated In?
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14.7 years ago
Andrew Su 4.9k

dbGaP seems to be a primary data repository, but it doesn't store results on the level of genes (or as far as I can tell, even genomic regions).

gwas gene genome • 8.8k views
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Some definitions from the wikipedia: In genetic epidemiology, a genome-wide association study (GWA study, or GWAS) - also known as whole genome association study (WGA study) - is an examination of genetic variation across a given genome, designed to identify genetic associations with observable traits.

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Thank you Istvan for the clarification!

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Real bummer that no one's seemed to have tackled this, isn't it?

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14.7 years ago

AFAIK, dbGAP is one of the official resource for GWAS studies. A mere gene search may not fetch the exact details about the studies. Dataset from large scale GWAS studies are not available under public access due to sensitive genotype and phenotype data from patients. You have to write to individual investigators to get access to the data. Usually this data will be available only after the Embargo Release date. This is usually after 1year of the submission of the data. I think once you have access to the dataset, you will able to get the p-values of the SNPs genotyped in the whole study with the de-identified case/control and their phenotypes. These SNPs may need further mapping to get the details about the genes.

The NHGRI website provides A Catalog of Published Genome-Wide Association Studies: They provide a detailed table of GWAS and their details. As of 03/24/10, this table includes 517 publications and 2443 SNPs. You may map this SNPs to get the respective genes.

Also this manuscript provides results from various GWAS studies.

I am looking forward for other comments to know if there is any public resource that provides GWAS data.

EDIT : I have recently used SCANDB, GWASIntegrator and VARIETAS for integrating GWAS studies around a gene.

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14.7 years ago
Jeff Kiefer ▴ 30

See if this helps possibly.

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good link, thanks... not the perfect solution, but a start perhaps...

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14.5 years ago
Hanif Khalak ★ 1.3k

dbGAP as already mentioned lists GWA studies - a search on a gene name, it seems, lists the studies that implicate that gene for a particular phenotype. Regarding data access, doesn't approval from the Data Access Committee of dbGAP give you access to the genotype and phenotype data?

Another NIH site, Genetics Association Database (GAD), lists gene-specific association (GSA?) studies. It also has disease and chromosome region browsing views and searching.

Come to think of it, I'm not sure why someone like NCBI couldn't just provide anonymized SNP/locus-specific raw data from the GWA/GSA studies to get around the "de-identification" issue. I know that ISCB is trying to drum up support for open access to published data and associated software - there's a lot of results buried in journal archives that would bear some mining to integrate in a searchable format.

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I don't think you can search dbGAP for a gene name directly, unless I'm missing something?

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You might be right - typing MYC in the search box yields many studies but that could be because they're all GWA, or a bug..

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14.3 years ago
Chl ▴ 180

Maybe try HuGENavigator which provides sensible results for GWAS studies.

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13.7 years ago

I'm the author and architect of http://www.biomedcentral.com/1471-2350/10/6.

We have put substantial effort into an update of this and are fairly far along (there will soon be ~10X the data as in the original publication). It is of course a moving target. We currently see no downward trend in the rate of GWAS publications as some might predict with the increasing focus on sequencing.

We are still trying to assess how we might release a portion (or possibly all) of our work, as well as thinking about our own research priorities in using the accumulated results. For a variety of reasons it may end being a partial release to top results from each study which will still include many more results than currently listed in the NHGRI catalog or other such portals.

If people who have posted on this list have ideas for how they might use such data if released or what information they think would be important to include I'd be glad to hear them. In this pre-publication phase I would also entertain legitimate suggestions for collaboration on a project by project basis (beyond requests to simply share all the data or do wide-ranging queries).

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14.7 years ago
Will 4.6k

While I've looked for this sort of information I've never actually found a reasonable database of this sort of information. OMIM is close to what you're looking for but its data is woefully sparse. SNPpedia is a wikipedia-like website trying to annotate the SNPs implicated in diseases but it is also terribly sparse.

Good luck.

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14.3 years ago

Exactly as Khader stated - see this paper's suppl files. However, that paper is rather dated in terms of the life of GWAS. SO much more has been published. The genome.gov site only lists the top SNPs and most robust associations whereas the above referenced paper digs deeper for what may be your definition of "implicated."

We are in conversation with the lead author of the above paper and he is hesitant to update his database/files because it is a mountain of work requiring an assistant.

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14.3 years ago

Larry - the updating part I get, it's the death of the database! Regarding the question, I have always been using the various functions on HuGENavigator, as mentioned by Khader and chl above - is this a comprehensive resource. Of course it is not specific for just GWAS so I wonder how complete it is - any answers from anyone?

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