[PDF] Top 20 Identifying causal rare variants of disease through family based analysis of Genetics Analysis Workshop 17 data set
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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 ...true causal SNPs are not polymorphic ... 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
... the rare variants in this data set is so low (40% of the SNPs have only a sin- gle copy of the minor allele out of the 697 observations), attempting to model the relationship between each ... See full document
5
Identifying rare variant associations in population based and family based designs
... genetic variants discovered to date have accounted for only a small portion of the estimated trait ...identify rare single-nucleotide variants associated with complex traits for ... See full document
5
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 ...VEGF causal pathway is significantly associated with both Q1 and disease ...two ... See full document
5
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 very low ... 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 ...of data generated and that can interpret the complicated relationship ... See full document
6
Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini exome data
... and variants based on the number of replicates that provide nonzero parameter estimates for ...the set of sig- nificant genes or variants can be ...true causal variants and genes ... See full document
6
Comparison of scoring methods for the detection of causal genes with or without rare variants
... Rare 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 ... See full document
7
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
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 include both ... See full document
5
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
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 ...causative disease regions in the framework of ... See full document
6
SNP set analysis for detecting disease association using exon sequence data
... common variants based on the idea of principal fitted components [8], which is then used to reduce the dimensionality of the logistic regression ...simulated data sets for unrelated individuals from ... See full document
6
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
Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches
... the disease genes are highly replicable in 200 simulations with power greater than 50% (Table 1), indi- cating a potentially true ...these data sets, where the genotype data are fixed across ...true ... See full document
5
Different approaches for dealing with rare variants in family based genetic studies: application of a Genetic Analysis Workshop 17 problem
... nonsynonymous variants information but was not successful endeavor (Table 2, columns A and ...our analysis because most of the rare variants present in the GAW17 data set are not ... See full document
6
Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data
... Genetic Analysis Workshop 17 (GAW17) is a colla- borative effort among researchers to improve our current understanding of genetic ...lated data based on real exon sequence data ... See full document
7
New insights into old methods for identifying causal rare variants
... the analysis of rare ...of rare variants in unrelated-individuals data sets faces the challenge of low power, and most methods circumvent the difficulty by using various collapsing ... See full document
5
Gene based analysis of rare and common variants to determine association with blood pressure
... common disease-common variant (CD- CV) hypothesis that underpins genome-wide association studies (GWAS) has led to the identification of several novel susceptibility ...GWAS-identified variants can only ... See full document
5
Methods for detecting associations between phenotype and aggregations of rare variants
... the data, this may well prove to be a better outcome than what we see in replicate 1, which most likely indicates a loss of ...the data — choosing a different number of PCs for each replicate (this is ... See full document
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