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Submitted to the Annals of Applied Statistics USING LINEAR PREDICTORS TO IMPUTE ALLELE FREQUENCIES FROM SUMMARY OR POOLED GENOTYPE DATA

by Xiaoquan Wen, Matthew Stephens
"... Recently-developed genotype imputation methods are a powerful tool for detecting untyped genetic variants that affect disease susceptibility in genetic association studies. However, existing imputation methods require individual-level genotype data, whereas in practice it is often the case that only ..."
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Recently-developed genotype imputation methods are a powerful tool for detecting untyped genetic variants that affect disease susceptibility in genetic association studies. However, existing imputation methods require individual-level genotype data, whereas in practice it is often the case

A multivariate technique for multiply imputing missing values using a sequence of regression models. Survey Methodology 27

by Trivellore E. Raghunathan, James M. Lepkowski, John Van Hoewyk, Peter Solenberger , 2001
"... This article describes and evaluates a procedure for imputing missing values for a relatively complex data structure when the data are missing at random. The imputations are obtained by fitting a sequence of regression models and drawing values from the corresponding predictive distributions. The ty ..."
Abstract - Cited by 175 (8 self) - Add to MetaCart
or constraints for the imputed values. The restrictions involve subsetting the sample individuals that satisfy certain criteria while fitting the regression models. The bounds involve drawing values from a truncated predictive distribution. The development of this method was partly motivated by the analysis

SNP imputation in association studies

by Eran Halperin , Dietrich A Stephan - Nat Biotechnol
"... The rationale that underlies imputation methods is that even though the causal SNP may not have been genotyped in the study at hand, it may have been genotyped in the reference population. In this case, simulations have revealed that the imputation of SNPs that appear in the reference population fa ..."
Abstract - Cited by 5 (0 self) - Add to MetaCart
The rationale that underlies imputation methods is that even though the causal SNP may not have been genotyped in the study at hand, it may have been genotyped in the reference population. In this case, simulations have revealed that the imputation of SNPs that appear in the reference population

Linkage Analysis With Sequential Imputation

by Zachary Skrivanek , Shili Lin , Mark Irwin - GENET EPIDEMIOL , 2003
"... ... In this article, we propose a Monte Carlo method for linkage analysis based on sequential imputation. Unlike exact methods, sequential imputation can handle large pedigrees with a moderate number of loci in its current implementation. This Monte Carlo method is an application of importance sampl ..."
Abstract - Cited by 2 (2 self) - Add to MetaCart
... In this article, we propose a Monte Carlo method for linkage analysis based on sequential imputation. Unlike exact methods, sequential imputation can handle large pedigrees with a moderate number of loci in its current implementation. This Monte Carlo method is an application of importance

Breakdown of Methods for Phasing and Imputation in the Presence of Double Genotype Sharing

by Carl Nettelblad , 2012
"... In genome-wide association studies, results have been improved through imputation of a denser marker set based on reference haplotypes and phasing of the genotype data. To better handle very large sets of reference haplotypes, prephasing with only study individuals has been suggested. We present a p ..."
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In genome-wide association studies, results have been improved through imputation of a denser marker set based on reference haplotypes and phasing of the genotype data. To better handle very large sets of reference haplotypes, prephasing with only study individuals has been suggested. We present a

1 Breakdown of methods for phasing and imputation in the presence of double genotype sharing

by Carl Nettelblad
"... In genome-wide association studies, results have been improved through imputation of a denser marker set based on reference haplotypes and phasing of the genotype data. To better handle very large sets of reference haplotypes, pre-phasing with only study individuals has been suggested. We present a ..."
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In genome-wide association studies, results have been improved through imputation of a denser marker set based on reference haplotypes and phasing of the genotype data. To better handle very large sets of reference haplotypes, pre-phasing with only study individuals has been suggested. We present a

Genetic EpidemiologyRESEARCH ARTICLE Imputation Without Doing Imputation: A New Method for the Detection of Non-Genotyped Causal Variants

by Richard Howey, Heather J. Cordell
"... ABSTRACT: Genome-wide association studies allow detection of non-genotyped disease-causing variants through testing of nearby genotyped SNPs. This approach may fail when there are no genotyped SNPs in strong LD with the causal variant. Several genotyped SNPs in weak LD with the causal variant may, h ..."
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genotyped “anchor ” SNP, a nearby genotyped “partner ” SNP, chosen via a specific algorithm we have developed. These two SNPs are used as predictors in linear or logistic regression analysis to generate a final significance test. In simulations, our method captures much of the signal captured by imputation

Practical issues in imputation-based association mapping

by Yongtao Guan, Matthew Stephens - PLoS Genet , 2008
"... Imputation-based association methods provide a powerful framework for testing untyped variants for association with phenotypes and for combining results from multiple studies that use different genotyping platforms. Here, we consider several issues that arise when applying these methods in practice, ..."
Abstract - Cited by 42 (7 self) - Add to MetaCart
Imputation-based association methods provide a powerful framework for testing untyped variants for association with phenotypes and for combining results from multiple studies that use different genotyping platforms. Here, we consider several issues that arise when applying these methods in practice

Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data.

by Bingshan Li , Suzanne M Leal - Am J Hum Genet , 2008
"... Although whole-genome association studies using tagSNPs are a powerful approach for detecting common variants, they are underpowered for detecting associations with rare variants. Recent studies have demonstrated that common diseases can be due to functional variants with a wide spectrum of allele ..."
Abstract - Cited by 201 (7 self) - Add to MetaCart
for analysis of common variants are applicable to sequence data, their performance might not be optimal. In this study, it is shown that the collapsing method, which involves collapsing genotypes across variants and applying a univariate test, is powerful for analyzing rare variants, whereas multivariate

Current software for genotype imputation

by David Ellinghaus, Stefan Schreiber, Andre Franke, Michael Nothnagel
"... Genotype imputation for single nucleotide polymorphisms (SNPs) has been shown to be a powerful means to include genetic markers in exploratory genetic association studies without having to genotype them, and is becoming a standard procedure. A number of different software programs are available. In ..."
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Genotype imputation for single nucleotide polymorphisms (SNPs) has been shown to be a powerful means to include genetic markers in exploratory genetic association studies without having to genotype them, and is becoming a standard procedure. A number of different software programs are available
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