[PDF] Top 20 Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
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Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
... The FWER of the variable threshold method is 0 in Table 3. This is a little surprising. To verify the validity of the results, we also perform the standard permutation procedure with 10 6 permutations. The standard ... 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 ...common variants. Exploring rare variants associated with diseases is ... See full document
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Detecting disease rare alleles using single SNPs in families and haplotyping in unrelated subjects from the Genetic Analysis Workshop 17 data
... real data will become larger as the costs of sequencing ...the rare causative variants in associa- tion with disease or quantitative ...two-step analysis design: the LME model for discovering ... See full document
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Case control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini exome sequence data
... for genetic variation underlying complex diseases turns to rare variants of small effect ascertained from genome-wide or exome-wide sequence data, the need for methods of disease-gene ... See full document
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Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?
... that rare variants with large effects will have a strong impact on corresponding ...that rare functional variants are enriched in the extremes of the phenotype ...this analysis of the ... See full document
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Assessing the impact of missing genotype data in rare variant association analysis
... for rare variants, may affect the results of their downstream ...genotype data on rare variant association ...the simulated data from Genetic Analysis ... See full document
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Propensity score analysis in the Genetic Analysis Workshop 17 simulated data set on independent individuals
... Genetic Analysis Workshop 17 provided simulated phenotypes and exome sequence data for 697 independent individuals (209 case subjects and 488 control ...these data was ... See full document
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Higher criticism approach to detect rare variants using whole genome sequencing data
... single-variant tests for whole genome sequencing (WGS) data, the association test for variant groups is a key approach for genetic ...weak genetic effects to be detected, the higher ... See full document
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Use of Bayesian networks to dissect the complexity of genetic disease: application to the Genetic Analysis Workshop 17 simulated data
... causal variants than synonymous SNPs ...the association analysis, we can reduce signal dilution and improve the power of detection of disease ...our analysis, we integrate the functional ... See full document
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Comparison of multilevel modeling and the family based association test for identifying genetic variants associated with systolic and diastolic blood pressure using Genetic Analysis Workshop 18 simulated data
... identify rare genetic ...family-based association studies are particularly useful for identifying rare-variant ...family-based genetic association ...sequence data, has ... See full document
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Different approaches for dealing with rare variants in family based genetic studies: application of a Genetic Analysis Workshop 17 problem
... ingful genetic information ...nonsynonymous variants information but was not successful endeavor (Table 2, columns A and ...Gene-based association tests that use population-specific haplotypic ... See full document
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Detecting rare functional variants using a wavelet based test on quantitative and qualitative traits
... genome-wide association study on the Genetic Analysis Workshop 17 simulated unrelated individuals data using a multilocus score test based on wavelet transformation ... See full document
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Comparison of scoring methods for the detection of causal genes with or without rare variants
... causal variants are believed to significantly contribute to the genetic basis of common diseases or quantitative ...disease-relevant variants in a genome-wide screening study. The publicly available ... See full document
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Rare variant analysis of blood pressure phenotypes in the Genetic Analysis Workshop 18 whole genome sequencing data using sequence kernel association test
... burden tests implicitly assume that all variants influence the trait in the same direction and with the same magnitude of effect (after incorporating known weights), their power is reduced if certain var- ... See full document
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Power of association tests in the presence of multiple causal variants
... the Genetic Analysis Workshop 17 (GAW17) mini- exome ...power analysis and exam- ined the correlations between SNPs in the GAW17 ...individuals data set, which consists of 697 ... See full document
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Identifying causal rare variants of disease through family based analysis of Genetics Analysis Workshop 17 data set
... detect association for three of the four polymorphic causal genes: power approaches 1 for VEGFA and VEGFC, regardless of allele frequency cutoff, whereas power var- ies by allele frequency cutoff for FLT1 ... See full document
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Confidence set of putative quantitative trait loci in whole genome scans with application to the Genetic Analysis Workshop 17 simulated data
... family simulated data sets from Genetic Analysis Workshop 17 (GAW17) [3] in an attempt to localize loci that are related to the simulated quantita- tive phenotype ... See full document
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Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches
... disease association studies, the common disease/com- mon variants (CDCV) model states that common dis- eases are caused by common variants with minor allele frequencies (MAFs) in the range of ... See full document
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Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data
... different rare risk variants in those ...tion tests fail to combine signals from different rare var- ...of rare variants, whereas others assign an adjustable weight to different ... See full document
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Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data
... multiple rare variants to common SNPs already associated with disease at the ...of association became even stronger with the removal of one or two rare SNPs (Figure ...of rare SNPs were ... See full document
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