Evidence map›Paper›PMID 17726055›Full record

ArticleNucleic acids research2007

Efficacy assessment of SNP sets for genome-wide disease association studies.

Andreas Wollstein, Alexander Herrmann, Michael Wittig, Michael Nothnagel, Andre Franke, Peter Nürnberg, Stefan Schreiber, Michael Krawczak, Jochen Hampe

Abstract readEvaluation Study
In one paragraph

Article in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
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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

9 authors.

Andreas WollsteinCologne Center for Genomics, Cologne, Germany.
Alexander Herrmann
Michael Wittig
Michael Nothnagel
Andre Franke
Peter Nürnberg
Stefan Schreiber
Michael Krawczak
Jochen Hampe

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The power of a genome-wide disease association study depends critically upon the properties of the marker set used, particularly the number and physical spacing of markers, and the level of inter-marker association due to linkage disequilibrium. Extending our previously devised theoretical framework for the entropy-based selection of genetic markers, we have developed a local measure of the efficacy of a marker set, relative to including a maximally polymorphic single nucleotide polymorphism (SNP) at the map position of interest. Using this quantitative criterion, we evaluated five currently available SNP sets, namely Affymetrix 100K and 500K, and Illumina 100K, 300K and 550K in the CEU, YRI and JPT + CHB HapMap populations. At 50% relative efficacy, the commercial marker sets cover between 19 and 68% of the human genome, depending upon the population under study. An optimal technology-independent 500K marker set constructed from HapMap for Caucasians, in contrast, would achieve 73% coverage at the same relative efficacy.

Indexed as

Genome, HumanPolymorphism, Single NucleotideChromosome MappingEntropyGenetic Diseases, InbornGenetic MarkersGenomicsGenotypeHumansLinkage DisequilibriumModels, GeneticOligonucleotide Array Sequence AnalysisGenetic Markers

Identifiers

PMID17726055
PMCPMC2034459

What OpenQuestion holds

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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.