Evidence map›Paper›PMID 23438886›Full record

ArticlePharmacogenomics2013

From single-SNP to wide-locus: genome-wide association studies identifying functionally related genes and intragenic regions in small sample studies.

Knut M Wittkowski, Vikas Sonakya, Tingting Song, Martin P Seybold, Mehdi Keddache, Martina Durner

Abstract read
In one paragraph

Article in Pharmacogenomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
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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

6 authors.

Knut M WittkowskiCenter for Clinical & Translational Science, The Rockefeller University, 1230 York Ave Box 322, New York, NY 10021, USA. kmw@rockefeller.edu
Vikas Sonakya
Tingting Song
Martin P Seybold
Mehdi Keddache
Martina Durner

Funding

TRANSFORMING TRANSLATIONAL SCIENCE AND EDUCATION TO BENEFIT HUMAN HEALTHUL1RR024143 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2006 to 2011
$49.1M
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8M
SEARCH FOR GENES INFLUENCING CHILDHOOD ABSENCE EPILESPYR01NS037466 · NINDS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI DURNER, MARTINA · 1999 to 2013
$4.8M
NCATS NIH HHS 8UL1TR000043NCATS NIH HHS UL1 TR000043NCRR NIH HHS 2UL1RR024143NCRR NIH HHS UL1 RR024143NINDS NIH HHS 2R01NS037466NINDS NIH HHS R01 NS037466
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) have had limited success when applied to complex diseases. Analyzing SNPs individually requires several large studies to integrate the often divergent results. In the presence of epistasis, multivariate approaches based on the linear model (including stepwise logistic regression) often have low sensitivity and generate an abundance of artifacts.

methodsRecent advances in distributed and parallel processing spurred methodological advances in nonparametric statistics. U-statistics for structured multivariate data (µStat) are not confounded by unrealistic assumptions (e.g., linearity, independence).

resultsBy incorporating knowledge about relationships between SNPs, µGWAS (GWAS based on µStat) can identify clusters of genes around biologically relevant pathways and pinpoint functionally relevant regions within these genes.

conclusionWith this computational biostatistics approach increasing power and guarding against artifacts, personalized medicine and comparative effectiveness will advance while subgroup analyses of Phase III trials can now suggest risk factors for adverse events and novel directions for drug development.

Indexed as

Statistics, NonparametricClinical Trials, Phase III as TopicEpilepsyEpistasis, GeneticGenome-Wide Association StudyHumansMetabolic Networks and PathwaysPolymorphism, Single Nucleotideras Proteinsras Proteins

Identifiers

PMID23438886
PMCPMC3643309

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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.