Evidence map›Paper›PMID 24448550›Full record

ArticleEuropean journal of human genetics : EJHG2014

Coverage and efficiency in current SNP chips.

Ngoc-Thuy Ha, Saskia Freytag, Heike Bickeboeller

Abstract readComparative Study
In one paragraph

Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing 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

38 citing papers in PubMed.

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  13. A comparison of genotyping arrays.European journal of human genetics : EJHG · 2021
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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

3 authors.

Ngoc-Thuy Ha1] Department of Genetic Epidemiology, University Medical Centre Goettingen, Goettingen, Germany [2] Department of Animal Sciences, Animal Breeding and Genetics Group, Georg-August-University Goettingen, Goettingen, Germany.
Saskia FreytagDepartment of Genetic Epidemiology, University Medical Centre Goettingen, Goettingen, Germany.
Heike BickeboellerDepartment of Genetic Epidemiology, University Medical Centre Goettingen, Goettingen, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To answer the question as to which commercial high-density SNP chip covers most of the human genome given a fixed budget, we compared the performance of 12 chips of different sizes released by Affymetrix and Illumina for the European, Asian, and African populations. These include Affymetrix' relatively new population-optimized arrays, whose SNP sets are each tailored toward a specific ethnicity. Our evaluation of the chips included the use of two measures, efficiency and cost-benefit ratio, which we developed as supplements to genetic coverage. Unlike coverage, these measures factor in the price of a chip or its substitute size (number of SNPs on chip), allowing comparisons to be drawn between differently priced chips. In this fashion, we identified the Affymetrix population-optimized arrays as offering the most cost-effective coverage for the Asian and African population. For the European population, we established the Illumina Human Omni 2.5-8 as the preferred choice. Interestingly, the Affymetrix chip tailored toward an Eastern Asian subpopulation performed well for all three populations investigated. However, our coverage estimates calculated for all chips proved much lower than those advertised by the producers. All our analyses were based on the 1000 Genome Project as reference population.

Indexed as

Polymorphism, Single NucleotideCost-Benefit AnalysisHumansOligonucleotide Array Sequence AnalysisRacial GroupsSensitivity and Specificity

Identifiers

PMID24448550
PMCPMC4135415

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.