[PDF] Top 20 Evaluating methods for combining rare variant data in pathway based tests of genetic association
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Evaluating methods for combining rare variant data in pathway based tests of genetic association
... these methods is to increase the power to identify causal SNPs while decreasing the multiple testing penalties that arise when the hundreds of thou- sands of SNPs typically involved in traditional genome- wide ... See full document
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Pathway based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data
... genome-wide association studies have been widely used to identify genetic risk factors for complex ...of genetic mar- kers to improve disease risk prediction still explains only a small proportion of ... See full document
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Combining effects from rare and common genetic variants in an exome wide association study of sequence data
... simulated data shows that classical approaches, such as linear regression testing common variants, were able to capture more of the association signal between causal genes and the trait of interest than the ... See full document
6
Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
... replicated data sets (200) and the conservative nature of the variable ...four methods have comparable power, which is low based on the analysis of the GAW17 data ... See full document
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A multistep approach to single nucleotide polymorphism–set analysis: an evaluation of power and type I error of gene based tests of association after pathway based association tests
... Although pathway-based association tests can offer improvements in power for detecting association with phenotypes of interest, a significant pathway-based asso- ciation ... See full document
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Evaluation of gene based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data
... rich data for the analysis of the role of rare variants in complex human diseases and ...single rare variant, many pooled association tests have been proposed for joint analysis ... See full document
6
Application of family based tests of association for rare variants to pathways
... such data. At the heart of most analytic approaches for NGS data is the desire to appropriately handle rare ...statistical tests of individual rare variants lack power and multiple ... See full document
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Reexamining Dis/Similarity-Based Tests for Rare-Variant Association with Case-Control Samples
... SNP data and next test the phenotypic as- sociation of each cluster with the difference between the be- tween-group and within-group ...U-statistic-based tests and similarity-based kernel ... See full document
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Small sample properties of rare variant analysis methods
... of genetic analysis, and methods to investigate rare variants associated with disease remain in high ...common rare variant analysis methods are burden tests and variance ... See full document
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Comparing family based rare variant association tests for dichotomous phenotypes
... existing rare variant association methods for family-based samples using Genetic Analysis Workshop 19 (GAW19) simulated ...different methods for dichotomous phenotypes: ... See full document
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A general method for combining different family based rare variant tests of association to improve power and robustness of a wide range of genetic architectures
... vidual tests of association; the additional noise from this correlation diminishes the power of the combined test to detect any meaningful genotype–phenotype associa- ...of tests minimizes such ... See full document
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Evaluation of pooled association tests for rare variant identification
... Genome-wide association studies have successfully identified many common variants associated with complex human ...Exploring rare variants associated with diseases is now catching more ...Several ... See full document
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Family based Bayesian collapsing method for rare variant association study
... is based on the HQTDT, but expands the HQTDT by incorporating the collapsing information of the deviation from the expected genotypic score for a group of SNPs and at the same time maintaining ...predict ... See full document
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Comparison of multiple single nucleotide variant association tests in a meta analysis of Genetic Analysis Workshop 19 family and unrelated data
... The meta-analysis of haplotype results identified as its second strongest signal the gene FPGT , a gene in LD with a single nucleotide polymorphism (SNP) previously re- ported to be associated ( p = 7.2 × 10 − 5 ) with ... See full document
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A pathway based association analysis model using common and rare variants
... mon variant association signal may actually represent effects from multiple rare variants, a situation that hap- pens when the multiple rare variants occur, by chance, more frequently in ... See full document
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Methods for Evaluating Medical Tests and Biomarkers
... Objective: To determine if the use of serial CTC counts can direct early discontinuation of 1st line chemotherapy in patients with meta- static CRPC without adversely impacting overall survival, when com- pared with ... See full document
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Novel tree based method to generate markers from rare variant data
... multiple-marker tests, and called their method the com- bined multivariate and collapsing (CMC) ...the rare variants and a quantitative variable for the pro- portion of the variants that carry at least one ... See full document
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Erratum to: Methods for evaluating medical tests and biomarkers
... 75Departments of Anesthesia & Clinical Epidemiology and Biostatistics, Michael DeGroote School of Medicine, Faculty of Health Sciences, McMaster University and the Perioperative Research[r] ... See full document
6
Rare Variant Association Testing Under Low-Coverage Sequencing
... of rare variants in disease risk. While methods have been developed to increase statistical power for detection of such effects, detecting subtle associations requires studies with hundreds or thousands of ... See full document
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Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease
... for genetic factors that influence disease risk in the field of human ...identify rare variants associated with human diseases or traits, an efficient genome-wide binning approach is ...for ... See full document
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