Evidence map›Paper›PMID 19801603›Full record

ArticleGenome research2009

Rapid inexpensive genome-wide association using pooled whole blood.

Jamie E Craig, Alex W Hewitt, Amy E McMellon, Anjali K Henders, Lingjun Ma, Leanne Wallace, Shiwani Sharma, Kathryn P Burdon, Peter M Visscher, Grant W Montgomery and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.

  1. Pooled it
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  5. Review
  6. Pooled DNA sequencing in hairy vetch (Frontiers in plant science · 2024
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  18. Genome-wide association study for ovarian cancer susceptibility using pooled DNA.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2012
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 1 country.

Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide SA 5042, Australia. jamie.craig@flinders.edu.au
Alex W Hewitt
Amy E McMellon
Anjali K Henders
Lingjun Ma
Leanne Wallace
Shiwani Sharma
Kathryn P Burdon
Peter M Visscher
Grant W Montgomery
Stuart MacGregor
Flinders University · AUQIMR Berghofer Medical Research Institute · AUThe University of Melbourne · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have now successfully identified important genetic variants associated with many human traits and diseases. The high cost of genotyping arrays in large data sets remains the major barrier to wider utilization of GWAS. We have developed a novel method in which whole blood from cases and controls, respectively, is pooled prior to DNA extraction for genotyping. We demonstrate proof of principle by clearly identifying the associated variants for eye color, age-related macular degeneration, and pseudoexfoliation syndrome in cohorts not previously studied. Blood pooling has the potential to reduce GWAS cost by several orders of magnitude and dramatically shorten gene discovery time. This method has profound implications for translation of modern genetic approaches to a multitude of diseases and traits yet to be analyzed by GWAS, and will enable developing nations to participate in GWAS.

Indexed as

Polymorphism, Single NucleotideBlood Specimen CollectionExfoliation SyndromeEye ColorGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeHumansMacular DegenerationMembrane Transport ProteinsWhite PeopleMembrane Transport ProteinsOCA2 protein, human

Identifiers

PMID19801603
PMCPMC2775600
OpenAlexW2171501491

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.