ArticleHuman heredity2012
Incorporating prior biologic information for high-dimensional rare variant association studies.
Article in Human heredity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.American journal of human genetics · 2026Article
- From genome-wide associations to candidate causal variants by statistical fine-mapping.Nature reviews. Genetics · 2018Review
- Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.British journal of cancer · 2018Article
- Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases.American journal of epidemiology · 2017Article
- Inclusion of biological knowledge in a Bayesian shrinkage model for joint estimation of SNP effects.Genetic epidemiology · 2017Article
- Genetic Variant Selection: Learning Across Traits and Sites.Genetics · 2016Article
- Identifying rare and common variants with Bayesian variable selection.BMC proceedings · 2016Article
- Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics.Genetics · 2015Article
- False discovery rates for rare variants from sequenced data.Genetic epidemiology · 2015Article
- Genetic Contribution of Variants near SORT1 and APOE on LDL Cholesterol Independent of Obesity in Children.PloS one · 2015Article
- A variational Bayes discrete mixture test for rare variant association.Genetic epidemiology · 2014Article
- Review
- Two-phase and family-based designs for next-generation sequencing studies.Frontiers in genetics · 2013Review
- A Bayesian Hierarchical Model for Relating Multiple SNPs within Multiple Genes to Disease Risk.International journal of genomics · 2013Article
- Some surprising twists on the road to discovering the contribution of rare variants to complex diseases.Human heredity · 2012Article
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Authors and funding
6 authors.
Funding
Abstract
backgroundGiven the increasing scale of rare variant association studies, we introduce a method for high-dimensional studies that integrates multiple sources of data as well as allows for multiple region-specific risk indices.
methodsOur method builds upon the previous Bayesian risk index by integrating external biological variant-specific covariates to help guide the selection of associated variants and regions. Our extension also incorporates a second level of uncertainty as to which regions are associated with the outcome of interest.
resultsUsing a set of study-based simulations, we show that our approach leads to an increase in power to detect true associations in comparison to several commonly used alternatives. Additionally, the method provides multi-level inference at the pathway, region and variant levels.
conclusionTo demonstrate the flexibility of the method to incorporate various types of information and the applicability to high-dimensional data, we apply our method to a single region within a candidate gene study of second primary breast cancer and to multiple regions within a candidate pathway study of colon cancer.
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