[PDF] Top 20 Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data
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Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data
... discover rare risk variants. Two different methods — collapsing and family data — are suggested as alternatives for discovering these rare ...common variants, rare ... 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 variants associated with complex diseases, but the common variants identified have small effect sizes and account for only a small fraction of the estimated heritability for common ...that ... See full document
5
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 ...the family-based sample makes it difficult to evaluate performance of any family-based ...the family-based sample, making it impossible for ... See full document
5
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 ...common genetic loci, including those from genome-wide association studies, have lacked sufficient accuracy for ... See full document
5
Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data
... evaluate collapsing methods using sequence ...a collapsing method is identical to a single-SNP ...GAW17 data were based on the real targeted exome sequence data from the pilot3 study of the ... See full document
5
Whole genome sequence analysis of the simulated systolic blood pressure in Genetic Analysis Workshop 18 family data: long term average and collapsing methods
... longitudinal family data is challenging because of 2 sources of correlations: correlations across longitudinal measurements and correlations among related ...whether analysis using long-term average ... See full document
5
Collapsing based and kernel based single gene analyses applied to Genetic Analysis Workshop 17 mini exome data
... identifying rare variants associated with common ...several collapsing-based and kernel-based single-gene association tests to Genetic Analysis Workshop 17 (GAW17) ... See full document
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Enriching rare variants using family specific linkage information
... common variants for common complex traits in recent ...common variants have generally failed to explain substantial proportions of the trait ...heritabilities. Rare variants, structural ... See full document
5
Detecting rare functional variants using a wavelet based test on quantitative and qualitative traits
... the Genetic Analysis Workshop 17 simulated unrelated individuals data using a multilocus score test based on wavelet transformation that we proposed ...popular collapsing methods ... See full document
6
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
7
Rare variant collapsing in conjunction with mean log p value and gradient boosting approaches applied to Genetic Analysis Workshop 17 data
... common variants associated with susceptibility to common diseases, there has been increasing interest in approaches that can identify rare genetic ...simulated data provided to the ... See full document
7
Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini exome data
... synonymous rare variants into two different terms and allow different shrinkage for them in the LASSO ...proportion collapsing method to do the col- lapsing because of its consistently good ... See full document
6
Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
... for rare variants — the combined multivariate and collapsing (CMC) method, two weighted-sum methods, and a variable threshold method — by applying them to the simulated data sets of unrelated ... See full document
5
Different approaches for dealing with rare variants in family based genetic studies: application of a Genetic Analysis Workshop 17 problem
... Rare variants are becoming the new candidates in the search for genetic variants that predispose individuals to a phenotype of ...A family-based approach could greatly enhance their ... See full document
6
Assessing the impact of missing genotype data in rare variant association analysis
... associations with ARNT (up to 3.9% of replicates, depending on the call rate) and HIF1A (0.5% of repli- cates with a 90% random call rate, 0.6% with a 95% ran- dom call rate, and just 0.3% with our allele-specific ... See full document
6
Case control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini exome sequence data
... this data set, our method detected five causal variants on four ...three variants associated with disease status: C1S9445 in PIK3C2B , C6S2981 in VEGFA , and C10S3050 in SIRT1 ...these ... See full document
5
Does pathway analysis make it easier for common variants to tag rare ones?
... Because none of the methods have been applied to path- way analysis with multiple common and rare variants, we investigate the type I error rate and power of each method. To determine the type I ... See full document
6
Identification of multiple rare variants associated with a disease
... Identifying rare variants that are responsible for complex disease has been promoted by advances in sequencing ...of data generated and that can interpret the complicated relationship between disease ... See full document
6
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
Pathway based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data
... between rare genetic variants and quantitative traits or disease status at the SNP, gene, and pathway ...single rare SNP but by multiple rare variants in multiple genes in the ... See full document
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