ArticleAmerican journal of human genetics2007
Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
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.
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Who cites it
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 155 citations in OpenAlex.
- Pooled genome-wide analysis to identify novel risk loci for pediatric allergic asthma.PloS one · 2011Pooled it
- Novel HLA-DP region susceptibility loci associated with severe acute GvHD.Bone marrow transplantation · 2017Trial
- New single nucleotide polymorphisms associated with differences in platelets reactivity in patients with type 2 diabetes treated with acetylsalicylic acid: genome-wide association approach and pooled DNA strategy.Journal of thrombosis and thrombolysis · 2013Trial
- Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.Clinical epigenetics · 2023Article
- Evaluation of the pooled sample method in Infinium MethylationEPIC BeadChip array by comparison with individual samples.Clinical epigenetics · 2023Article
- TBX5 Variants are Associated with Susceptibility to and the Incidence of Liver Cirrhosis and Hepatocellular Carcinoma in the Chinese Population: A Multicenter and Follow-Up Study.Infection and drug resistance · 2023Article
- Genetic and epigenetic control of ACE2 expression and its possible role in COVID-19.Cell biochemistry and function · 2021Review
- Group testing can improve the cost-efficiency of prospective-retrospective biomarker studies.BMC medical research methodology · 2021Article
- Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach.International journal of obesity (2005) · 2018Article
- A new approach to epigenome-wide discovery of non-invasive methylation biomarkers for colorectal cancer screening in circulating cell-free DNA using pooled samples.Clinical epigenetics · 2018Article
- Genome-Wide Association Study of Acute Renal Graft Rejection.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2017Article
- GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.Scientific reports · 2016Article
- Identification of Susceptibility Genes of Adult Asthma in French Canadian Women.Canadian respiratory journal · 2016Article
- Article
- DNA methylation levels are highly correlated between pooled samples and averaged values when analysed using the Infinium HumanMethylation450 BeadChip array.Clinical epigenetics · 2015Article
- Identification of susceptibility genes for peritoneal, ovarian, and deep infiltrating endometriosis using a pooled sample-based genome-wide association study.BioMed research international · 2015Article
- Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal.PloS one · 2015Article
- Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.Human genetics · 2014Article
- Genetic implication of a novel thiamine transporter in human hypertension.Journal of the American College of Cardiology · 2014Article
- Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.Journal of psychiatric research · 2013Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 8 institutions in 5 countries.
Funding
Abstract
We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectiveness of pooling genomic DNA as a low-cost alternative to individually genotyping thousands of samples on high-density SNP microarrays. Next, we describe software called "GenePool," which directly analyzes SNP microarray probe intensity data and ranks SNPs by increased likelihood of being genetically associated with a trait or disorder. Finally, we apply these methods to experimental case-control data and demonstrate successful identification of published genetic susceptibility loci for a rare monogenic disease (sudden infant death with dysgenesis of the testes syndrome), a rare complex disease (progressive supranuclear palsy), and a common complex disease (Alzheimer disease) across multiple SNP genotyping platforms. On the basis of these theoretical calculations and their experimental validation, our results suggest that pooling-based GWA studies are a logical first step for determining whether major genetic associations exist in diseases with high heritability.
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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.