ArticleGenetic epidemiology2010
Gene, region and pathway level analyses in whole-genome studies.
Article in Genetic epidemiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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.
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
32 citing papers in PubMed.
- Genome-wide association study identifies novel variants in olfactory, vitamin A, vitamin B, and cadherin pathways associated with learning and memory.Scientific reports · 2025Article
- Genomewide association study for economic traits in the large yellow croaker with different numbers of extreme phenotypes.Journal of genetics · 2018Article
- Efficient Software for Multi-marker, Region-Based Analysis of GWAS Data.G3 (Bethesda, Md.) · 2016Article
- Adaptive Set-Based Methods for Association Testing.Genetic epidemiology · 2016Article
- Gene set analysis: A step-by-step guide.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015Review
- Relative performance of gene- and pathway-level methods as secondary analyses for genome-wide association studies.BMC genetics · 2015Article
- Pathway analysis with next-generation sequencing data.European journal of human genetics : EJHG · 2015Article
- META-GSA: Combining Findings from Gene-Set Analyses across Several Genome-Wide Association Studies.PloS one · 2015Article
- Article
- Pathway-based analysis tools for complex diseases: a review.Genomics, proteomics & bioinformatics · 2014Review
- Functional and genomic context in pathway analysis of GWAS data.Trends in genetics : TIG · 2014Review
- A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2014Article
- Whole-genome pathway analysis on 132,497 individuals identifies novel gene-sets associated with body mass index.PloS one · 2014Article
- Using genetically informed, randomized prevention trials to test etiological hypotheses about child and adolescent drug use and psychopathology.American journal of public health · 2013Article
- Dissecting high-dimensional phenotypes with bayesian sparse factor analysis of genetic covariance matrices.Genetics · 2013Article
- Article
- Assessing methods for assigning SNPs to genes in gene-based tests of association using common variants.PloS one · 2013Article
- Article
- Use of the gamma method for self-contained gene-set analysis of SNP data.European journal of human genetics : EJHG · 2012Article
- Gene set analysis of survival following ovarian cancer implicates macrolide binding and intracellular signaling genes.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
In the setting of genome-wide association studies, we propose a method for assigning a measure of significance to pre-defined sets of markers in the genome. The sets can be genes, conserved regions, or groups of genes such as pathways. Using the proposed methods and algorithms, evidence for association between a particular functional unit and a disease status can be obtained not just by the presence of a strong signal from a SNP within it, but also by the combination of several simultaneous weaker signals that are not strongly correlated. This approach has several advantages. First, moderately strong signals from different SNPs are combined to obtain a much stronger signal for the set, therefore increasing power. Second, in combination with methods that provide information on untyped markers, it leads to results that can be readily combined across studies and platforms that might use different SNPs. Third, the results are easy to interpret, since they refer to functional sets of markers that are likely to behave as a unit in their phenotypic effect. Finally, the availability of gene-level P-values for association is the first step in developing methods that integrate information from pathways and networks with genome-wide association data, and these can lead to a better understanding of the complex traits genetic architecture. The power of the approach is investigated in simulated and real datasets. Novel Crohn's disease associations are found using the WTCCC data.
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Registered trials
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.