[PDF] Top 20 Application of family based tests of association for rare variants to pathways
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Application of family based tests of association for rare variants to pathways
... few family-based tests of rare variant associa- tion that are appropriate for complex pedigrees analyzing dichotomous phenotypes for association with rare var- iants (see ... See full document
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Evaluation of the power and type I error of recently proposed family based tests of association for rare variants
... analyze rare-variant association with binary phenotypes in complex ...containing variants with weak effects on the phenotype. Application of the methods to the real hypertension phenotype ... See full document
5
Enrichment analysis of genetic association in genes and pathways by aggregating signals from both rare and common variants
... combining association signals across multiple ...of rare variants, with two methods for gene set enrichment analysis and demonstrated the importance of normalizing gene-level test ...tested ... See full document
5
Family based tests applied to extended pedigrees identify rare variants related to hypertension
... The application of family-based tests to whole-genome sequenced data provides a new window on the role of rare variant alleles in the etiology of ...applying family-based ... See full document
5
Evaluating methods for combining rare variant data in pathway based tests of genetic association
... genome-wide association studies is a relatively new approach that aims to capitalize on biological knowledge about the interactions of genes in biological ...of rare variants. Applying pathway ... See full document
5
Pathway based analysis of rare and common variants to test for association with blood pressure
... Antonio Family Heart Study and San Antonio Family Diabetes/Gallbladder Study, which are supported by NIH grants P01 HL045222, R01 DK047482, and R01 ... See full document
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Family studies to find rare high risk variants in migraine
... of rare variants and unrelated cases represent a wide range of different ...a family, the combination of variants is probably specific to that one family, and because of this clustering ... See full document
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A Powerful and Adaptive Association Test for Rare Variants
... for association between a binary trait and a set of rare variants (RVs), although its application can be much broader to other types of traits, common variants (CVs), and gene set or ... 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
... 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
A general method for combining different family based rare variant tests of association to improve power and robustness of a wide range of genetic architectures
... Current rare-variant, gene-based tests of association often suffer from a lack of statistical power to detect genotype – phenotype associations as a result of a lack of prior knowledge of ... See full document
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A combined association test for rare variants using family and case control data
... imputed based on the sequenced individuals. Admixture analysis for the family data suggested that most of the fam- ily ancestry is European and Native American, where the proportions of the two ancestries ... See full document
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Use of principal components to aggregate rare variants in case control and family based association studies in the presence of multiple covariates
... of rare single nucleo- tide variants can now be ...measure rare variants allows researchers to investigate the multiple rare variant/common disease model, which may help to elucidate ... See full document
7
Comparing family based rare variant association tests for dichotomous phenotypes
... causal variants is uniquely pro- vided by FARVAT. Power when 50 % of rare variants are causal is less than the power when 10 % are causal, which might be attributed to insufficient number of ...the ... See full document
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Testing rare variants for hypertension using family based tests with different weighting schemes
... Hypertension or high blood pressure is a chronic med- ical condition with unknown complex etiology [1]. Blood pressure is summarized by 2 measurements: systolic and diastolic. High blood pressure is said to be present if ... See full document
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Family based Bayesian collapsing method for rare variant association study
... common variants identified in genome-wide association studies (GWAS) as being associated with various complex diseases can account for only a small portion of pheno- type variation ...on rare ... See full document
7
Power Evaluations for Family-Based Tests of Association With Incomplete Parental Genotypes
... in family-based association tests, sampling design issues with incomplete parental genotype data still have not received much ...in family-based association ...With ... See full document
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Evaluation of association tests for rare variants using simulated data sets in the Genetic Analysis Workshop 17 data
... the rare variants and common variants are analyzed jointly, the CMC method cannot control the FWER and weighted-sum method I has a slightly inflated FWER; when only the rare variants ... See full document
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Power of association tests in the presence of multiple causal variants
... We first derive formulas for computing the power of the score tests in the presence of multiple causal SNPs. We then give theoretical explanations of the hyper-LD effect. We focus our discussion on quantitative ... See full document
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Prioritization of family member sequencing for the detection of rare variants
... of rare variants that influence disease. Family-based association studies have likewise been crucial in the fine-mapping of genetic variants contribut- ing to complex ...of ... See full document
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Evaluation of pooled association tests for rare variant identification
... (four tests)—fixed-threshold, weighted-sum, and variable-threshold methods—for detecting rare var- ...discriminate rare from com- mon variants. Based on the simulation model for Q1, ... See full document
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