[PDF] Top 20 Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches
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Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches
... at identifying common 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 ... See full document
5
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
... are statistical models with para- meters that vary at more than 1 level [3] and have been widely used in social, behavioral, business, marketing, and economic studies in which the empirical data exhibit a ... See full document
7
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 ...Appropriate statistical methods are required to discover the highest possible ... See full document
7
Identifying rare variant associations in population based and family based designs
... identified genetic variants discovered to date have accounted for only a small portion of the estimated trait ...Consequently, several methods have been developed to identify rare ... See full document
5
Identifying rare variants using a Bayesian regression approach
... sequence data with rare variants in a cost-effective ...way. Statistical methods that test variants individually are underpowered to detect rare variants, so it is ... See full document
5
Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini exome data
... detecting disease-associated common variants. However, common variants, with rare exceptions, explain only at most 5 – 10% of the heritability resulting from genetic factors, which ... See full document
6
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 ...the simulated data provided ... See full document
7
Identifying causal rare variants of disease through family based analysis of Genetics Analysis Workshop 17 data set
... The Genetic Analysis Workshop 17 (GAW17) data set was developed to model a real-world rare variant screen using data generated from a mini-exome scan ...genotype ... See full document
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Propensity score analysis in the Genetic Analysis Workshop 17 simulated data set on independent individuals
... Sequencing data sets still have a relatively small sam- ple size that limits the power of a study to detect asso- ciations with rare variants in a traditional case-control ...genomic variants ... See full document
6
Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data
... of rare variants in disease susceptibility ...Although several common SNPs have shown significant associations with diseases, these effect sizes have always been small, contributing to the ... See full document
5
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 ...However, statistical methods that can handle the vast amount of ... See full document
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Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?
... common disease/rare variant hypothesis predicts that rare variants with large effects will have a strong impact on corresponding ...that rare functional variants are enriched in ... See full document
6
Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
... for identifying the genetic variants that influence complex diseases or traits ...common disease model [2], but they have low power to detect rare ...that rare var- iants have ... See full document
5
Collapsing ROC approach for risk prediction research on both common and rare variants
... The FROC approach uses a computationally efficient algorithm, the forward selection algorithm, to search a large number of genetic predictors for an optimal risk prediction model. The forward selection algorithm ... See full document
5
Detecting disease rare alleles using single SNPs in families and haplotyping in unrelated subjects from the Genetic Analysis Workshop 17 data
... regions, rare alleles may play an important role in creating the foundation for individual subjects’ susceptibility or resis- tance to a particular ...in genetic research to identify causative ... See full document
6
Detecting rare functional variants using a wavelet based test on quantitative and qualitative traits
... Using Eigenstrat [7] can remove some effects of popula- tion stratification; however, it cannot remove all inflated type I errors. A large number of principal components will not always reduce the type I error rate; ... See full document
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Enriching rare variants using family specific linkage information
... in identifying common variants for common complex traits in recent ...common variants have generally failed to explain substantial proportions of the trait ...heritabilities. Rare ... See full document
5
Genetics of kidney failure and the evolving story of APOL1
... kidney disease (CKD) results from a wide array of processes that impair the kidney’s abil- ity to perform its major ...renal disease, but there are also examples of centenarians with adequate renal ...that ... See full document
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Does the inclusion of rare variants improve risk prediction?
... because of the variance in the PSME median distribu- tions.) Caution is needed when making conclusions about the TLP because of the limited number of combi- nations of l and τ studied because of time constraints. The ... See full document
5
Higher criticism approach to detect rare variants using whole genome sequencing data
... by simulated and real data with much larger sample ...based variants ’ apparent effect sizes [13] or data-driven weights ...meaningful variants from pro- tein-coding point of view [15] ... See full document
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