Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

2012/08/01 by Seunggeun Lee, Mary J. Emond, Michael J. Bamshad +8 · 36 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities

paper · pdf · doi:10.1016/j.ajhg.2012.06.007

Citations

• Generalized Genomic Distance–Based Regression Methodology for Multilocus Association Analysis

Cited by

• Rare-Variant Association Analysis: Study Designs and Statistical Tests
• A Generalized Similarity U Test for Multivariate Analysis of Sequencing Data
• Rare variants in crops: theoretical insights and emerging detection strategies
• Association Analysis of Common and Rare SNVs using Adaptive Fisher Method to Detect Dense and Sparse Signals
• Mechanism of age-related accumulation of mtDNA mutations in human blood
• Epistasis regulates genetic control of cardiac hypertrophy
• Trumpet plots: visualizing the relationship between allele frequency and effect size in genetic association studies
• Functional Analysis of Variance for Association Studies
• Hi-C informed kernel association test: integrating 3-dimensional genome structure into variant-set association for whole-genome sequencing data
• TFisher Tests: Optimal and Adaptive Thresholding for Combining p-Values
• Multi-View Variational Autoencoder for Missing Value Imputation in Untargeted Metabolomics
• Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. [europepmc]
• The next-generation sequencing revolution and its impact on genomics. [europepmc]
• Meta-analysis of gene-level tests for rare variant association. [europepmc]
• Rare variant association studies: considerations, challenges and opportunities. [europepmc]
• The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. [europepmc]
• Whole-Genome Sequencing of a Healthy Aging Cohort. [europepmc]
• The Genetic Landscape of Renal Complications in Type 1 Diabetes. [europepmc]
• PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. [europepmc]
• The impact of rare and low-frequency genetic variants in common disease. [europepmc]
• Settling the score: variant prioritization and Mendelian disease. [europepmc]
• Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. [europepmc]
• Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. [europepmc]
• A linear mixed-model approach to study multivariate gene-environment interactions. [europepmc]
• The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics. [europepmc]
• Exome sequencing of Finnish isolates enhances rare-variant association power. [europepmc]
• Characterizing rare and low-frequency height-associated variants in the Japanese population. [europepmc]
• Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. [europepmc]
• Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. [europepmc]
• Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease. [europepmc]
• PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins. [europepmc]
• GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. [europepmc]
• Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. [europepmc]
• Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. [europepmc]
• Using genetic association data to guide drug discovery and development: Review of methods and applications. [europepmc]
• Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. [europepmc]