[PDF] Top 20 Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data
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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
... adding multiple rare variants to common SNPs already associated with disease at the ...of disease (Table ...of association became even stronger with the removal of ... See full document
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Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?
... The common disease/rare variant hypothesis predicts that rare variants with large effects will have a strong impact on corresponding ...that rare functional variants are ... See full document
6
Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches
... detect rare variants and successfully pinpointed several true disease genes containing rare SNPs in the GAW17 data ...first data set and then made use of the remaining 199 ... See full document
5
Disease risk prediction with rare and common variants
... whether rare var- iants provide valuable predictive information beyond that provided by common variants and environmental covari- ates ...collapsed rare SNPs to prediction models that ... See full document
5
Does pathway analysis make it easier for common variants to tag rare ones?
... the data provided by Genetic Ana- lysis Workshop 17 (GAW17) [5] and several pathway analysis methods, we test the vascular endothelial growth factor (VEGF) pathway that influences ... See full document
6
Pathway based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data
... associations between rare genetic variants and quantitative traits or disease status at the SNP, gene, and pathway ...SNP, gene, and pathway levels for Q2 and Q4, but we ... See full document
5
Methods for detecting associations between phenotype and aggregations of rare variants
... much data as possible given the physical and/or financial restraints in ...if disease phenotypes are in large part due to the presence of collections of rare var- iants, the so-called multiple ... See full document
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Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini exome data
... tag SNPs have been successful in detecting disease-associated common ...However, common variants, with rare exceptions, explain only at most 5 – 10% of the heritability resulting ... See full document
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A gene based approach for testing association of rare alleles
... Genome-wide association studies (GWAS) have been promising for identifying the underlying genetic basis of complex ...many disease susceptibility regions have been identified using this ...most ... 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
... two association tests that work well with common alleles but are applied to the Genetic Analysis Workshop 17 simulations with rare causative single-nucleotide ... See full document
6
Collapsing ROC approach for risk prediction research on both common and rare variants
... emerging genetic findings holds great promise for improving public health and clinical ...existing common genetic loci, including those from genome-wide association studies, have lacked ... See full document
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Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
... control association tests, including 89 patients ...the disease course (median ~17.2 years). BA-association genes from the genome-wide gene-based association test on common ... See full document
9
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 ...of disease-relevant variants in a genome-wide screening ...available ... See full document
7
Identifying causal rare variants of disease through family based analysis of Genetics Analysis Workshop 17 data set
... only rare variants does not have a major ...causal SNPs are not polymorphic in the family-based sample, making it impossible for both linkage and association analyses to identify the causal ... See full document
5
Are quantitative trait dependent sampling designs cost effective for analysis of rare and common variants?
... whole-genome association studies of sequence data can reduce total sequencing costs with modest losses of statistical ...(QT) analysis of data from the Genetic Analysis ... See full document
6
Identification of multiple rare variants associated with a disease
... relationship between genetic variants and disease traits within ...GAW17 data set we analyzed, we performed an MDS analysis based on all the available exonic SNPs using ... See full document
6
Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
... Genome-wide association studies have become a useful tool for identifying the genetic variants that influence complex diseases or traits ...Traditional association tests can perform ... See full document
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Original Article Clinical relevance of tag single nucleotide polymorphisms within the CAT gene in patients with PTSD in the Chongqing Han population
... Alzheimer’s disease, and ...the association of CAT gene polymorphisms with PTSD in a case-control ...CAT gene through construction of haplotype bins, and they were genotyped using an improved ... See full document
9
Power of association tests in the presence of multiple causal variants
... strictly between 0 and 1 at most ...agreement between the analytical power and the simulated power confirms our theoretical finding 1: The power of a score test can be explained by the cumulative effect of ... See full document
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Gene based analysis of rare and common variants to determine association with blood pressure
... the association test for genotype with complex ...In addition, our analysis is focused on the independent subjects only, which limits our sample ...for analysis, but also the number of ... See full document
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