Genotype imputation with thousands of genomes
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 …
resolution of genetic association studies. Imputation methods work by using haplotype …
[HTML][HTML] Mapping of disease-associated variants in admixed populations
Recent developments in high-throughput genotyping and whole-genome sequencing will
enhance the identification of disease loci in admixed populations. We discuss how a more …
enhance the identification of disease loci in admixed populations. We discuss how a more …
MaCH‐Admix: genotype imputation for admixed populations
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 …
complex linkage disequilibrium (LD) pattern. The emergence of large reference panels such …
[HTML][HTML] Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium
While genome-wide association studies (GWAS) have primarily examined populations of
European ancestry, more recent studies often involve additional populations, including …
European ancestry, more recent studies often involve additional populations, including …
Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations
A key aim for current genome‐wide association studies (GWAS) is to interrogate the full
spectrum of genetic variation underlying human traits, including rare variants, across …
spectrum of genetic variation underlying human traits, including rare variants, across …
Haplotype variation and genotype imputation in African populations
L Huang, M Jakobsson, TJ Pemberton… - Genetic …, 2011 - Wiley Online Library
Abstract Sub‐Saharan Africa has been identified as the part of the world with the greatest
human genetic diversity. This high level of diversity causes difficulties for genome‐wide …
human genetic diversity. This high level of diversity causes difficulties for genome‐wide …
Imputation of rare variants in next-generation association studies
The role of rare variants has become a focus in the search for association with complex
traits. Imputation is a powerful and cost-efficient tool to access variants that have not been …
traits. Imputation is a powerful and cost-efficient tool to access variants that have not been …
DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts
Motivation: To increase the signal resolution for large-scale meta-analyses of genome-wide
association studies, genotypes at unmeasured single nucleotide polymorphisms (SNPs) are …
association studies, genotypes at unmeasured single nucleotide polymorphisms (SNPs) are …
Genotype imputation reference panel selection using maximal phylogenetic diversity
The recent dramatic cost reduction of next-generation sequencing technology enables
investigators to assess most variants in the human genome to identify risk variants for …
investigators to assess most variants in the human genome to identify risk variants for …
A coalescent model for genotype imputation
EM Jewett, M Zawistowski, NA Rosenberg, S Zöllner - Genetics, 2012 - academic.oup.com
The potential for imputed genotypes to enhance an analysis of genetic data depends largely
on the accuracy of imputation, which in turn depends on properties of the reference panel of …
on the accuracy of imputation, which in turn depends on properties of the reference panel of …