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Analyses and comparison of accuracy of different genotype imputation methods

by Yu-fang Pei, Jian Li, Lei Zhang, Christopher J. Papasian, Hong-wen Deng - PLoS ONE , 2008
"... The power of genetic association analyses is often compromised by missing genotypic data which contributes to lack of significant findings, e.g., in in silico replication studies. One solution is to impute untyped SNPs from typed flanking markers, based on known linkage disequilibrium (LD) relations ..."
Abstract - Cited by 13 (0 self) - Add to MetaCart
) relationships. Several imputation methods are available and their usefulness in association studies has been demonstrated, but factors affecting their relative performance in accuracy have not been systematically investigated. Therefore, we investigated and compared the performance of five popular genotype

A comparison of bayesian methods for haplotype reconstruction from population genotype data.

by Matthew Stephens , Peter Donnelly , Dr Matthew Stephens - Am J Hum Genet , 2003
"... In this report, we compare and contrast three previously published Bayesian methods for inferring haplotypes from genotype data in a population sample. We review the methods, emphasizing the differences between them in terms of both the models ("priors") they use and the computational str ..."
Abstract - Cited by 557 (7 self) - Add to MetaCart
In this report, we compare and contrast three previously published Bayesian methods for inferring haplotypes from genotype data in a population sample. We review the methods, emphasizing the differences between them in terms of both the models ("priors") they use and the computational

Marchini J: A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009

by Bryan N. Howie, Peter Donnelly, Jonathan Marchini
"... Genotype imputation methods are now being widely used in the analysis of genome-wide association studies. Most imputation analyses to date have used the HapMap as a reference dataset, but new reference panels (such as controls genotyped on multiple SNP chips and densely typed samples from the 1,000 ..."
Abstract - Cited by 449 (5 self) - Add to MetaCart
Genotype imputation methods are now being widely used in the analysis of genome-wide association studies. Most imputation analyses to date have used the HapMap as a reference dataset, but new reference panels (such as controls genotyped on multiple SNP chips and densely typed samples from the 1

A new multipoint method for genome-wide association studies by imputation of genotypes. Nature genetics.

by Jonathan Marchini , Bryan Howie , Simon Myers , Gil Mcvean , Peter Donnelly , 2007
"... ..."
Abstract - Cited by 385 (5 self) - Add to MetaCart
Abstract not found

A fast and flexible statistical model for large-scale population genotype data: Applications to inferring missing genotypes and haplotype phase

by Paul Scheet, Matthew Stephens - American Journal of Human Genetics , 2005
"... We present a statistical model for patterns of genetic variation in samples of unrelated individuals from natural populations. This model is based on the idea that, over short regions, haplotypes in a population tend to cluster into groups of similar haplotypes. To capture the fact that, because of ..."
Abstract - Cited by 408 (10 self) - Add to MetaCart
missing genotypes and estimating haplotypic phase. For imputing missing genotypes, methods based on this model are as accurate or more accurate than existing methods. For haplotype estimation, the point estimates are slightly less accurate than those from the best existing methods (e.g., for unrelated

Metabolomics: the link between genotypes and phenotypes

by Oliver Fiehn - Plant Molecular Biology
"... Metabolites are the end products of cellular regulatory processes, and their levels can be regarded as the ultimate response of biological systems to genetic or environmental changes. In parallel to the terms ‘transcriptome ’ and ‘proteome’, the set of metabolites synthesized by a biological system ..."
Abstract - Cited by 236 (14 self) - Add to MetaCart
changes without sufficient analytical resolution to determine metabolite levels and identities individually. As a prerequisite for metabolomic analysis, careful consideration of the methods employed for tissue extraction, sample preparation, data acquisition, and data mining must be taken. In this review

MaCH-Admix: Genotype Imputation for Admixed Populations

by Eric Yi Liu, Mingyao Li, Wei Wang, Yun Li , 2012
"... ABSTRACT: Imputation in admixed populations is an important problem but challenging due to the complex linkage disequilibrium (LD) pattern. The emergence of large reference panels such as that from the 1,000 Genomes Project enables more accurate imputation in general, and in particular for admixed p ..."
Abstract - Cited by 23 (3 self) - Add to MetaCart
populations and for uncommon variants. To efficiently benefit from these large reference panels, one key issue to consider in modern genotype imputation framework is the selection of effective reference panels. In this work, we consider a number of methods for effective reference panel construction inside a

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

INVESTIGATION Genotype Imputation with Thousands of Genomes

by Bryan Howie, Jonathan Marchini, Matthew Stephens
"... ABSTRACT Genotype imputation is a statistical technique that is often used to increase the power and resolution of genetic association studies. Imputation methods work by using haplotype patterns in a reference panel to predict unobserved genotypes in a study dataset, and a number of approaches have ..."
Abstract - Cited by 34 (1 self) - Add to MetaCart
ABSTRACT Genotype imputation is a statistical technique that is often used to increase the power and resolution of genetic association studies. Imputation methods work by using haplotype patterns in a reference panel to predict unobserved genotypes in a study dataset, and a number of approaches

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
not covered by these technologies. Moreover, how does one consolidate distinct data sets when subsets of the same population are genotyped with slightly different technologies that have different capacities? Imputation methods address these problems by using the linkage disequilibrium structure in a region
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