| Using the gene ontology to scan multilevel gene sets for associations in genome wide association studies |
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| Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident |
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| Haploscope: a tool for the graphical display of haplotype structure in populations |
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| Next generation analytic tools for large scale genetic epidemiology studies of complex diseases |
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| Inflated type I error rates when using aggregation methods to analyze rare variants in the 1000 Genomes Project exon sequencing data in unrelated individuals: summary results from Group 7 at Genetic A |
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| A novel bayesian graphical model for genome‐wide multi‐SNP association mapping |
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| Rare variants, common markers: synthetic association and beyond |
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| Detecting rare variant associations: methods for testing haplotypes and multiallelic genotypes |
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| Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini‐exome data |
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| Statistical analysis of rare sequence variants: an overview of collapsing methods |
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| Analysis of exome sequences with and without incorporating prior biological knowledge |
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ancestry; population structure |
| Incorporating biological information into association studies of sequencing data |
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| Identification of genetic association of multiple rare variants using collapsing methods |
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| Effect of linkage disequilibrium on the identification of functional variants |
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| Dealing with high dimensionality for the identification of common and rare variants as main effects and for gene‐environment interaction |
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| Detecting multiple causal rare variants in exome sequence data |
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| Joint analyses of disease and correlated quantitative phenotypes using next‐generation sequencing data |
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| Association of direct‐to‐consumer genome‐wide disease risk estimates and self‐reported disease |
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| Brief review of regression‐based and machine learning methods in genetic epidemiology: the Genetic Analysis Workshop 17 experience |
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| Population‐based and family‐based designs to analyze rare variants in complex diseases |
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| Introduction to genetic analysis workshop 17 summaries |
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| Incorporating linkage information into a common disease/rare variant framework |
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| Association between <i>PARP‐1</i> V762A polymorphism and cancer susceptibility: a meta‐analysis |
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Asian populations |
| Quality control issues and the identification of rare functional variants with next‐generation sequencing data |
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| Multiple testing in high‐throughput sequence data: experiences from Group 8 of Genetic Analysis Workshop 17 |
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| Lessons learned from Genetic Analysis Workshop 17: transitioning from genome‐wide association studies to whole‐genome statistical genetic analysis |
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| Transethnic meta‐analysis of genomewide association studies |
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European‐descent populations; diverse populations; ethnic groups; transethnic |
| Sifting the wheat from the chaff: prioritizing GWAS results by identifying consistency across analytical methods |
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| PlatinumCNV: A Bayesian Gaussian mixture model for genotyping copy number polymorphisms using SNP array signal intensity data |
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| Genetic epidemiology with a Capital E, ten years after |
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| On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium |
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| Haplotype variation and genotype imputation in African populations |
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Sub‐Saharan Africa; African populations; non‐African populations; recent African descent; African an |
| To stratify or not to stratify: power considerations for population‐based genome‐wide association studies of quantitative traits |
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| Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality |
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| Evaluation of an approximation method for assessment of overall significance of multiple‐dependent tests in a genomewide association study |
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| Identity‐by‐descent‐based phasing and imputation in founder populations using graphical models |
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| Improving power and robustness for detecting genetic association with extreme‐value sampling design |
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| Entropy-based information gain approaches to detect and to characterize gene-gene and gene-environment interactions/correlations of complex diseases |
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| Rapid testing of gene‐gene interactions in genome‐wide association studies of binary and quantitative phenotypes |
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| A fast algorithm to optimize SNP prioritization for gene-gene and gene-environment interactions |
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| Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies |
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| Optimal methods for meta-analysis of genome-wide association studies |
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| Approximate and exact tests of Hardy-Weinberg equilibrium using uncertain genotypes |
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| Multilocus association testing with penalized regression |
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| Defining the power limits of genome‐wide association scan meta‐analyses |
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| Incorporating model uncertainty in detecting rare variants: the Bayesian risk index |
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| A new association test based on Chi-square partition for case-control GWA studies |
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| Robust Mantel-Haenszel test under genetic model uncertainty allowing for covariates in case-control association studies |
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| Stability selection for genome-wide association |
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| Kernel machine SNP-set analysis for censored survival outcomes in genome-wide association studies |
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| A comparison of strategies for analyzing dichotomous outcomes in genome-wide association studies with general pedigrees |
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| A test of Hardy-Weinberg equilibrium in structured populations |
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| Method to detect differentially methylated loci with case-control designs using Illumina arrays |
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| X chromosome association testing in genome wide association studies |
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| A data-driven method for identifying rare variants with heterogeneous trait effects |
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| Identity by descent estimation with dense genome-wide genotype data |
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| The use of imputed values in the meta-analysis of genome-wide association studies |
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| Power and type I error results for a bias-correction approach recently shown to provide accurate odds ratios of genetic variants for the secondary phenotypes associated with primary diseases |
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| Genome-wide detection and characterization of mating asymmetry in human populations |
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| Comparison of statistical tests for disease association with rare variants |
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| Contrasting linkage disequilibrium as a multilocus family-based association test |
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| Bias due to two-stage residual-outcome regression analysis in genetic association studies |
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| A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact |
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| Detection of cis-acting regulatory SNPs using allelic expression data |
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| Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array |
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| Identification of association between disease and multiple markers via sparse partial least-squares regression |
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| Dissecting prenatal, postnatal, and inherited effects: ART and design |
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| Evaluation of methods accounting for population structure with pedigree data and continuous outcomes |
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| Optimum designs for next-generation sequencing to discover rare variants for common complex disease |
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| Improved genetic association tests for an ordinal outcome representing the disease progression process |
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| Uncovering the total heritability explained by all true susceptibility variants in a genome-wide association study |
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| Detecting genetic interactions for quantitative traits with U-statistics |
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| Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate |
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| Evaluation of polygenic risk scores for predicting breast and prostate cancer risk |
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| When is the absence of evidence, evidence of absence? Use of equivalence-based analyses in genetic epidemiology and a conclusion for the KIF1B rs10492972*C allelic association in multiple sclerosis |
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| Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS) |
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| The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery |
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| Fast, exact linkage analysis for categorical traits on arbitrary pedigree designs |
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| Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling |
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| Adaptive tests for association analysis of rare variants |
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| Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes |
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| An improved score test for genetic association studies |
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| Genetic variance components estimation for binary traits using multiple related individuals |
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| Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability |
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| Linkage analysis without defined pedigrees |
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| Disease model distortion in association studies |
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| Bayesian semiparametric meta-analysis for genetic association studies |
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| Comparison of methods and sampling designs to test for association between rare variants and quantitative traits |
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| Efficient study design for next generation sequencing |
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| On the follow-up of genome-wide association studies: an overall test for the most promising SNPs |
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| Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases |
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| Sampling GWAS subjects from risk populations |
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| Validity and power of association testing in family-based sampling designs: evidence for and against the common wisdom |
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| Confounded by sequencing depth in association studies of rare alleles |
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| Gene‐environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop |
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| Relationship between genomic distance‐based regression and kernel machine regression for multi‐marker association testing |
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| Estimation of odds ratios of genetic variants for the secondary phenotypes associated with primary diseases |
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| Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants |
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| Latent class model with familial dependence to address heterogeneity in complex diseases: adapting the approach to family-based association studies |
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| Sample size requirements to detect gene-environment interactions in genome-wide association studies |
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| LOHAS: loss‐of‐heterozygosity analysis suite |
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✓ |
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30 African trios; 30 Caucasian trios; 90 independent Asian samples |
| Quantifying and correcting for the winner's curse in quantitative-trait association studies |
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| Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience |
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| Propensity score‐based nonparametric test revealing genetic variants underlying bipolar disorder |
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| The impact of self‐identified race on epidemiologic studies of gene expression |
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✓ |
✓ |
non-Hispanic whites; African Americans; self-identified race |
| A comparison of approaches to account for uncertainty in analysis of imputed genotypes |
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| SNP mistyping in genotyping arrays-an important cause of spurious association in case-control studies |
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| On optimal pooling designs to identify rare variants through massive resequencing |
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| Multiple testing corrections for imputed SNPs |
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