Evidence map›Paper›PMID 18276640›Full record

ArticleNucleic acids research2008

Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays.

Stuart Macgregor, Zhen Zhen Zhao, Anjali Henders, Martin G Nicholas, Grant W Montgomery, Peter M Visscher

Abstract readComparative StudyEvaluation Study
In one paragraph

Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed
–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

61 citing papers in PubMed.

  1. Trial
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  7. Identification of genes for seed isoflavones based on bulk segregant analysis sequencing in soybean natural population.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2023
    Article
  8. Article
  9. Review
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  11. Frontiers in genetics · 2021
    Article
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  18. Genome-Wide Association Study of Acute Renal Graft Rejection.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2017
    Article
  19. Article
  20. Article

1 more citing papers are in PubMed but not listed here.

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

6 authors.

Stuart MacgregorGenetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia. stuart.macgregor@qims.edu.au
Zhen Zhen Zhao
Anjali Henders
Martin G Nicholas
Grant W Montgomery
Peter M Visscher

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association (GWA) studies to map genes for complex traits are powerful yet costly. DNA-pooling strategies have the potential to dramatically reduce the cost of GWA studies. Pooling using Affymetrix arrays has been proposed and used but the efficiency of these arrays has not been quantified. We compared and contrasted Affymetrix Genechip HindIII and Illumina HumanHap300 arrays on the same DNA pools and showed that the HumanHap300 arrays are substantially more efficient. In terms of effective sample size, HumanHap300-based pooling extracts >80% of the information available with individual genotyping (IG). In contrast, Genechip HindIII-based pooling only extracts approximately 30% of the available information. With HumanHap300 arrays concordance with IG data is excellent. Guidance is given on best study design and it is shown that even after taking into account pooling error, one stage scans can be performed for >100-fold reduced cost compared with IG. With appropriately designed two stage studies, IG can provide confirmation of pooling results whilst still providing approximately 20-fold reduction in total cost compared with IG-based alternatives. The large cost savings with Illumina HumanHap300-based pooling imply that future studies need only be limited by the availability of samples and not cost.

Indexed as

Genome, HumanPolymorphism, Single NucleotideFemaleGene FrequencyGenomicsGenotypeHumansOligonucleotide Array Sequence AnalysisSequence Analysis, DNA

Identifiers

PMID18276640
PMCPMC2346606

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Registered trials

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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.