Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic
variation underlying human traits. Here we apply genotype imputation based on whole …
variation underlying human traits. Here we apply genotype imputation based on whole …
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Next-generation association studies can be empowered by sequence-based imputation and
by studying founder populations. Here we report∼ 9.5 million variants from whole-genome …
by studying founder populations. Here we report∼ 9.5 million variants from whole-genome …
The impact of low-frequency and rare variants on lipid levels
Using a genome-wide screen of 9.6 million genetic variants achieved through 1000
Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 …
Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 …
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
Exome association studies to date have generally been underpowered to systematically
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …
[HTML][HTML] Integrating common and rare genetic variation in diverse human populations
International HapMap 3 Consortium - Nature, 2010 - ncbi.nlm.nih.gov
Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …
inherited risk remains unexplained. A more complete understanding requires genome-wide …
Imputing phenotypes for genome-wide association studies
Genome-wide association studies (GWASs) have been successful in detecting variants
correlated with phenotypes of clinical interest. However, the power to detect these variants …
correlated with phenotypes of clinical interest. However, the power to detect these variants …
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment
Motivation: Imputation using external reference panels (eg 1000 Genomes) is a widely used
approach for increasing power in genome-wide association studies and meta-analysis …
approach for increasing power in genome-wide association studies and meta-analysis …
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits
Genome-wide association studies have identified hundreds of loci for type 2 diabetes,
coronary artery disease and myocardial infarction, as well as for related traits such as body …
coronary artery disease and myocardial infarction, as well as for related traits such as body …
A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts
The Nurses' Health Study (NHS), Nurses' Health Study II (NHSII), Health Professionals
Follow Up Study (HPFS) and the Physicians Health Study (PHS) have collected detailed …
Follow Up Study (HPFS) and the Physicians Health Study (PHS) have collected detailed …
Discovery and fine-mapping of glycaemic and obesity-related trait loci using high-density imputation
M Horikoshi, R Mӓgi, M van de Bunt, I Surakka… - PLoS …, 2015 - journals.plos.org
Reference panels from the 1000 Genomes (1000G) Project Consortium provide near
complete coverage of common and low-frequency genetic variation with minor allele …
complete coverage of common and low-frequency genetic variation with minor allele …