ArticleHuman heredity2009
Optimal DNA pooling-based two-stage designs in case-control association studies.
Article in Human heredity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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Who cites it
8 citing papers in PubMed.
- A joint use of pooling and imputation for genotyping SNPs.BMC bioinformatics · 2022Article
- Two-phase and family-based designs for next-generation sequencing studies.Frontiers in genetics · 2013Review
- Analysis and optimal design for association studies using next-generation sequencing with case-control pools.Genetic epidemiology · 2012Article
- Genome-wide association study identifies PERLD1 as asthma candidate gene.BMC medical genetics · 2011Article
- On optimal pooling designs to identify rare variants through massive resequencing.Genetic epidemiology · 2011Article
- Pooled versus individual genotyping in a breast cancer genome-wide association study.Genetic epidemiology · 2010Article
- Pooling-based genome-wide association study implicates gamma-glutamyltransferase 1 (GGT1) gene in pancreatic carcinogenesis.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2010Article
- A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).BMC medical genetics · 2009Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Study cost remains the major limiting factor for genome-wide association studies due to the necessity of genotyping a large number of SNPs for a large number of subjects. Both DNA pooling strategies and two-stage designs have been proposed to reduce genotyping costs. In this study, we propose a cost-effective, two-stage approach with a DNA pooling strategy. During stage I, all markers are evaluated on a subset of individuals using DNA pooling. The most promising set of markers is then evaluated with individual genotyping for all individuals during stage II. The goal is to determine the optimal parameters (pi(p)(sample ), the proportion of samples used during stage I with DNA pooling; and pi(p)(marker ), the proportion of markers evaluated during stage II with individual genotyping) that minimize the cost of a two-stage DNA pooling design while maintaining a desired overall significance level and achieving a level of power similar to that of a one-stage individual genotyping design. We considered the effects of three factors on optimal two-stage DNA pooling designs. Our results suggest that, under most scenarios considered, the optimal two-stage DNA pooling design may be much more cost-effective than the optimal two-stage individual genotyping design, which use individual genotyping during both stages.
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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.