39 Result(s)
within
Lude Franke
Science, Humanities and Social Sciences, multidisciplinary
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Article
Open AccessGenome-wide characterization of circulating metabolic biomarkers
Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism1–7. This detailed knowledge of the genetic determinants of systemic me...
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Open AccessOTTERS: a powerful TWAS framework leveraging summary-level reference data
Most existing TWAS tools require individual-level eQTL reference data and thus are not applicable to summary-level reference eQTL datasets. The development of TWAS methods that can harness summary-level refere...
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Open AccessLipid-induced transcriptomic changes in blood link to lipid metabolism and allergic response
Immune cell function can be altered by lipids in circulation, a process potentially relevant to lipid-associated inflammatory diseases including atherosclerosis and rheumatoid arthritis. To gain further insigh...
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Open AccessGut mucosa dissociation protocols influence cell type proportions and single-cell gene expression levels
Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of the cellular landscape of organs. Most single-cell protocols require fresh material, which limits sample size per experiment, and conseque...
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Open AccessSingle-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure
The host’s gene expression and gene regulatory response to pathogen exposure can be influenced by a combination of the host’s genetic background, the type of and exposure time to pathogens. Here we provide a d...
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Open AccessMeta-analyses identify DNA methylation associated with kidney function and damage
Chronic kidney disease is a major public health burden. Elevated urinary albumin-to-creatinine ratio is a measure of kidney damage, and used to diagnose and stage chronic kidney disease. To extend the knowledg...
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Retraction Note: Detection and replication of epistasis influencing transcription in humans
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Phantom epistasis between unlinked loci
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Genetic insights into biological mechanisms governing human ovarian ageing
Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 ...
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Open AccessEpigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption
Coffee and tea are extensively consumed beverages worldwide which have received considerable attention regarding health. Intake of these beverages is consistently linked to, among others, reduced risk of diabe...
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Open AccessRelationship between gut microbiota and circulating metabolites in population-based cohorts
Gut microbiota has been implicated in major diseases affecting the human population and has also been linked to triglycerides and high-density lipoprotein levels in the circulation. Recent development in metab...
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Open AccessAssociations of autozygosity with a broad range of human phenotypes
In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because...
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Open AccessImproving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
The diagnostic yield of exome and genome sequencing remains low (8–70%), due to incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq data from 31,499 samples to predict which g...
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Open AccessAutosomal genetic variation is associated with DNA methylation in regions variably esca** X-chromosome inactivation
X-chromosome inactivation (XCI), i.e., the inactivation of one of the female X chromosomes, restores equal expression of X-chromosomal genes between females and males. However, ~10% of genes show variable degr...
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Open AccessGenome-wide identification of directed gene networks using large-scale population genomics data
Identification of causal drivers behind regulatory gene networks is crucial in understanding gene function. Here, we develop a method for the large-scale inference of gene–gene interactions in observational po...
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Open AccessPR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity
Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study o...
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Open AccessAuthor Correction: GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk
We have been alerted that in our recent Article the calculations used to transform the heritability from the observed scale to the liability scale did not take into account the individuals in category 2 of the...
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Open AccessReply to ‘Misestimation of heritability and prediction accuracy of male-pattern baldness’
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Open AccessGWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk
Male pattern baldness (MPB) or androgenetic alopecia is one of the most common conditions affecting men, reaching a prevalence of ~50% by the age of 50; however, the known genes explain little of the heritabil...
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Open AccessCNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits ...
