65 Result(s)
within
Lude Franke
English
-
Article
Open AccessDemuxafy: improvement in droplet assignment by integrating multiple single-cell demultiplexing and doublet detection methods
Recent innovations in single-cell RNA-sequencing (scRNA-seq) provide the technology to investigate biological questions at cellular resolution. Pooling cells from multiple individuals has become a common strat...
-
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...
-
Article
Open AccessPICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs
Expression quantitative trait loci (eQTL) offer insights into the regulatory mechanisms of trait-associated variants, but their effects often rely on contexts that are unknown or unmeasured. We introduce PICAL...
-
Article
Open AccessPhenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers
The c.40_42delAGA variant in the phospholamban gene (PLN) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70. However, t...
-
Article
Open AccessIdentification of genetic variants that impact gene co-expression relationships using large-scale single-cell data
Expression quantitative trait loci (eQTL) studies show how genetic variants affect downstream gene expression. Single-cell data allows reconstruction of personalized co-expression networks and therefore the id...
-
Article
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...
-
Article
Open AccessBrain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases
Identification of therapeutic targets from genome-wide association studies (GWAS) requires insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing samples from 14 brain datasets to...
-
Article
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...
-
Article
Open AccessPublisher Correction: Age-dependent sex differences in cardiometabolic risk factors
-
Article
Open AccessAge-dependent sex differences in cardiometabolic risk factors
Cardiometabolic diseases (CMDs) are a major cause of mortality worldwide, yet men and women present remarkable differences in disease prognosis, onset and manifestation. Here we characterize how sex difference...
-
Article
Open AccessLimited evidence for blood eQTLs in human sexual dimorphism
The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic effects. Neverthele...
-
Article
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...
-
Article
Open AccessGenetic, parental and lifestyle factors influence telomere length
The average length of telomere repeats (TL) declines with age and is considered to be a marker of biological ageing. Here, we measured TL in six blood cell types from 1046 individuals using the clinically vali...
-
Article
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...
-
Article
Open AccessAuthor Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
-
Article
Open AccessFunctional genomics analysis identifies T and NK cell activation as a driver of epigenetic clock progression
Epigenetic clocks use DNA methylation (DNAm) levels of specific sets of CpG dinucleotides to accurately predict individual chronological age. A popular application of these clocks is to explore whether the dev...
-
Article
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...
-
Article
Open AccessCommon and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide a...
-
Article
Retraction Note: Detection and replication of epistasis influencing transcription in humans
-
Article
Open AccessIntegration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease
Recent studies highlight the role of metabolites in immune diseases, but it remains unknown how much of this effect is driven by genetic and non-genetic host factors.
