ArticleHuman genetics2010
Genome-wide searching of rare genetic variants in WTCCC data.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exploring associations between estrogen and gene candidates identified by coronary artery disease genome-wide association studies.Frontiers in cardiovascular medicine · 2025Pooled it
- Rare KDM4C variants and reduced expression underlie epigenetic dysregulation in rheumatoid arthritis.Immunologic research · 2026Article
- Leveraging low-cost short-read sequencing: revolutionizing complex trait genetics.Molecular biology and evolution · 2026Article
- Distributed transformer for high order epistasis detection in large-scale datasets.Scientific reports · 2024Article
- A guidance of model selection for genomic prediction based on linear mixed models for complex traits.Frontiers in genetics · 2022Article
- Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.BMC medical genomics · 2020Article
- IGREX for quantifying the impact of genetically regulated expression on phenotypes.NAR genomics and bioinformatics · 2020Article
- Article
- A non-threshold region-specific method for detecting rare variants in complex diseases.PloS one · 2017Article
- eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene.Journal of applied genetics · 2016Article
- CGC: A Flexible and Robust Approach to Integrating Co-Regularized Multi-Domain Graph for Clustering.ACM transactions on knowledge discovery from data · 2016Article
- Test of rare variant association based on affected sib-pairs.European journal of human genetics : EJHG · 2015Article
- Cohen's h for detection of disease association with rare genetic variants.BMC genomics · 2014Article
- Rheumatoid arthritis susceptibility genes: An overview.World journal of orthopedics · 2014Review
- Detecting local haplotype sharing and haplotype association.Genetics · 2014Article
- Article
- Reactivation of fetal splicing programs in diabetic hearts is mediated by protein kinase C signaling.The Journal of biological chemistry · 2013Article
- Genetics of rheumatoid arthritis - a comprehensive review.Clinical reviews in allergy & immunology · 2013Review
- Haplotype kernel association test as a powerful method to identify chromosomal regions harboring uncommon causal variants.Genetic epidemiology · 2013Article
- A flexible approach for the analysis of rare variants allowing for a mixture of effects on binary or quantitative traits.PLoS genetics · 2013Article
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2 authors.
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Abstract
Although they have demonstrated success in searching for common variants for complex diseases, genome-wide association (GWA) studies are less successful in detecting rare genetic variants because of the poor statistical power of most of current methods. We developed a two-stage method that can apply to GWA studies for detecting rare variants. Here we report the results of applying this two-stage method to the Wellcome Trust Case Control Consortium (WTCCC) dataset that include seven complex diseases: bipolar disorder, cardiovascular disease, hypertension (HT), rheumatoid arthritis, Crohn's disease, type 1 diabetes and type 2 diabetes (T2D). We identified 24 genes or regions that reach genome wide significance. Eight of them are novel and were not reported in the WTCCC study. The cumulative risk (or protective) haplotype frequency for each of the 8 genes or regions is small, being at most 11%. For each of the novel genes, the risk (or protective) haplotype set cannot be tagged by the common SNPs available in chips (r (2) < 0.32). The gene identified in HT was further replicated in the Framingham Heart Study, and is also significantly associated with T2D. Our analysis suggests that searching for rare genetic variants is feasible in current GWA studies and candidate gene studies, and the results can severe as guides to future resequencing studies to identify the underlying rare functional variants.
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