ArticleJournal of the American Medical Informatics Association : JAMIA2012
Clinical utility of sequence-based genotype compared with that derivable from genotyping arrays.
Article in Journal of the American Medical Informatics Association : JAMIA, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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.
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.
Who cites it
2 citing papers in PubMed.
- The coming age of data-driven medicine: translational bioinformatics' next frontier.Journal of the American Medical Informatics Association : JAMIA · 2012Article
- Translational bioinformatics embraces big data.Yearbook of medical informatics · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
objectiveWe investigated the common-disease relevant information obtained from sequencing compared with that reported from genotyping arrays. MATERIALS AND
methodsUsing 187 publicly available individual human genomes, we constructed genomic disease risk summaries based on 55 common diseases with reported gene-disease associations in the research literature using two different risk models, one based on the product of likelihood ratios and the other on the allelic variant with the maximum associated disease risk. We also constructed risk profiles based on the single nucleotide polymorphisms (SNPs) of these individuals that could be measured or imputed from two common genotyping array platforms.
resultsWe show that the model risk predictions derived from sequencing differ substantially from those obtained from the SNPs measured on commercially available genotyping arrays for several different non-monogenic diseases, although high density genotyping arrays give identical results for many diseases.
conclusionsOur approach may be used to compare the ability of different platforms to probe known genetic risks disease by disease.
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Registered trials
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