[PDF] Top 20 Rare variant association testing for sequencing data.pdf
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Rare variant association testing for sequencing data.pdf
... identify rare variants associated with complex ...single-marker association analysis for rare variants poses a central challenge in such ...for association between genetic variants (common and ... See full document
12
A Robust and Powerful Set-Valued Approach to Rare Variant Association Analyses of Secondary Traits in Case-Control Sequencing Studies
... genome-wide association (GWAS) or next generation sequencing (NGS) studies, extensive data on secondary traits that may correlate and share the common genetic variants with the primary disease are ... See full document
14
A gene based approach for testing association of rare alleles
... for rare genetic variants are attract- ing much attention in the genome era, especially with the advance of next-generation sequencing ...Because rare alleles appear in only a few individuals, the ... See full document
5
Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease
... generation sequencing technologies such as whole genome sequencing (WGS) has facilitated the search for genetic factors that influence disease risk in the field of human ...identify rare variants ... See full document
7
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing
... Among melanoma cases, there were 4 mutations in our discovery set (Fig S2; one p.Q137R, one p.A409T and two p.N484S), 3 mutations in the TCGA cohort (one p.P594L and two p.G459C) and 2 variants in the European melanoma ... See full document
24
Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies.
... ABSTRACT: Rare variants have been shown to be significant contributors to complex disease ...typical sequencing study sample ...of rare variants across case-control status by analyzing relatively ... See full document
26
Evaluation of pooled association tests for rare variant identification
... multiple rare variants in a gene. Based on our analyses for the GAW17 data, we find that no method is universally better than the ...pooled association methods with the GAW17 exome simulation ... 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 analysis to ... See full document
5
Assessing the impact of missing genotype data in rare variant association analysis
... and/or sequencing failures, which, particu- larly for rare variants, may affect the results of their downstream ...genotype data on rare variant association ...simulated ... See full document
6
PubMedCentral-PMC5063501.pdf
... typical sequencing study sample ...of rare variants across case- control status by analyzing relatively small partitions of the genome, such as ...which rare variants may be driving a given ... See full document
19
Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H
... (R615H) variant among those reported in Table 1, considering that SEZ6 has already been reported as rele- vant for molecular mechanisms involved in AD pathogen- esis, because it is a substrate of the BACE-1 enzyme ... See full document
20
Rare variant association studies: considerations, challenges and opportunities
... disease-causing rare variants is to study a family with multiple affected ...involves sequencing co-affected family members and searching for overlapping variants that co-segregate with the condition of ... See full document
11
Reexamining Dis/Similarity-Based Tests for Rare-Variant Association with Case-Control Samples
... SNP data and next test the phenotypic as- sociation of each cluster with the difference between the be- tween-group and within-group ...for sequencing data (referred to as WU-SEQ) to investigate ... See full document
9
Rare variant analysis of blood pressure phenotypes in the Genetic Analysis Workshop 18 whole genome sequencing data using sequence kernel association test
... other rare variant methods, is severely hindered by small sample sizes, and this data set was no ...several rare variant meth- ods and found that SKAT is very conservative when sample ... See full document
6
Rare Variant Association Testing Under Low-Coverage Sequencing
... Deep sequencing technologies enable the study of the effects of rare variants in disease ...low-coverage sequencing has been shown to effectively reduce the cost of genome-wide association ... See full document
17
Family based Bayesian collapsing method for rare variant association study
... suitable data for testing our ...genotypic data for each family, a proportion of the RVs are randomly selected to be causal, represented by an indicator vector ... See full document
7
Joint analysis of multiple blood pressure phenotypes in GAW19 data by using a multivariate rare variant association test
... Figure 3 compares the gene-based multivariate MURAT with single-phenotype analyses for 15 genes where associ- ation with hypertension has been well demonstrated in the NIH-GWAS catalog. Although none of these genes show ... See full document
5
Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease
... of rare variants with the optimal Sequence Kernel Association Test (SKAT-O) ...[23]. Rare variants were defined as variants with less than 1/ √ (2 N) = ...for testing the association ... See full document
8
Powerful association test combining rare variant and gene expression using family data from Genetic Analysis Workshop 19
... The rare variants here are defined as genetic variants with a minor allele frequency of less than 1 ...one variant at a time is oftentimes underpowered for rare variant detection unless the ... See full document
5
Statistical Properties of Single-Marker Tests for Rare Variants
... genome-wide association single-nucleotide polymor- phism (SNP) chips and next generation sequencing, human geneticists now have the ability to assay genetic variation at ever-rarer allele ...these ... See full document
8
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