Rare-Variant Association Analysis: Study Designs and Statistical Tests

2014/07/01 by Seunggeun Lee, Seunggeung Lee, Gonçalo R. Abecasis +3 · 36 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders

paper · pdf · doi:10.1016/j.ajhg.2014.06.009

Citations

• Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
• Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies
• A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

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• Functional insights into dispensable genes using genome-wide loss-of-function burden tests in Arabidopsis
• Cauchy combination test: a powerful test with analytic p-value calculation under arbitrary dependency structures
• PERCH: A Unified Framework for Disease Gene Prioritization
• Accurate proteome-wide missense variant effect prediction with AlphaMissense
• Correcting for Genomic Inflation Leads to Loss of Power in Large‐Scale Genome‐Wide Association Study Meta‐Analysis
• Enhancing power of rare variant association test by Zoom-Focus Algorithm (ZFA) to locate optimal testing region
• Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes
• Rare coding variants in ten genes confer substantial risk for schizophrenia
• Determining the driving factors shaping genetic architecture of complex traits in recently admixed populations
• Rare variant association studies: considerations, challenges and opportunities. [europepmc]
• Genetic linkage analysis in the age of whole-genome sequencing. [europepmc]
• Genetics and Pathogenesis of Inflammatory Bowel Disease. [europepmc]
• Smokescreen: a targeted genotyping array for addiction research. [europepmc]
• Exome and genome sequencing for inborn errors of immunity. [europepmc]
• Dissecting the genetics of complex traits using summary association statistics. [europepmc]
• PERCH: A Unified Framework for Disease Gene Prioritization. [europepmc]
• Opportunities and challenges of whole-genome and -exome sequencing. [europepmc]
• Genetics of coronary artery disease: discovery, biology and clinical translation. [europepmc]
• The impact of rare and low-frequency genetic variants in common disease. [europepmc]
• Settling the score: variant prioritization and Mendelian disease. [europepmc]
• Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. [europepmc]
• Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. [europepmc]
• Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. [europepmc]
• Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. [europepmc]
• Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. [europepmc]
• ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. [europepmc]
• Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts. [europepmc]
• Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants. [europepmc]
• Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. [europepmc]
• Cauchy combination test: a powerful test with analytic p -value calculation under arbitrary dependency structures. [europepmc]
• Rare coding variants in ten genes confer substantial risk for schizophrenia. [europepmc]
• Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots. [europepmc]
• A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. [europepmc]
• Polygenic architecture of rare coding variation across 394,783 exomes. [europepmc]