-
Article
Open AccessDefining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations
Type 2 diabetes (T2D) is a heterogeneous and polygenic disease. Previous studies have leveraged the highly polygenic and pleiotropic nature of T2D variants to partition the heterogeneity of T2D, in order to st...
-
Article
Open AccessDonor lamella thickness after ultrathin Descemet strip** automated endothelial keratoplasty and its relation to postoperative visual acuity and pre-operative lamella measures
To accurately measure ultrathin Descemet strip** automated endothelial keratoplasty (DSAEK) donor lamella thickness during the first postoperative year and to correlate this with pre-operative and other post...
-
Article
Open AccessMulti-source data approach for personalized outcome prediction in lung cancer screening: update from the NELSON trial
Trials show that low-dose computed tomography (CT) lung cancer screening in long-term (ex-)smokers reduces lung cancer mortality. However, many individuals were exposed to unnecessary diagnostic procedures. Th...
-
Article
Open AccessDenseUNets with feedback non-local attention for the segmentation of specular microscopy images of the corneal endothelium with guttae
Corneal guttae, which are the abnormal growth of extracellular matrix in the corneal endothelium, are observed in specular images as black droplets that occlude the endothelial cells. To estimate the corneal p...
-
Article
Open AccessDistinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Frontotemporal dementia is characterized by progressive atrophy of frontal and/or temporal cortices at an early age of onset. The disorder shows considerable clinical, pathological, and genetic heterogeneity. ...
-
Article
Open AccessNew insights into the genetic etiology of Alzheimer’s disease and related dementias
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We per...
-
Article
Open AccessGenome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions
Genetic factors play a major role in frontotemporal dementia (FTD). The majority of FTD cannot be genetically explained yet and it is likely that there are still FTD risk loci to be discovered. Common variants...
-
Article
Open AccessEvaluation of commonly used analysis strategies for epigenome- and transcriptome-wide association studies through replication of large-scale population studies
A large number of analysis strategies are available for DNA methylation (DNAm) array and RNA-seq datasets, but it is unclear which strategies are best to use. We compare commonly used strategies and report how...
-
Article
Open AccessFully convolutional architecture vs sliding-window CNN for corneal endothelium cell segmentation
Corneal endothelium (CE) images provide valuable clinical information regarding the health state of the cornea. Computation of the clinical morphometric parameters requires the segmentation of endothelial cell...
-
Article
Open AccessLarge-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exom...
-
Chapter and Conference Paper
Improved Accuracy and Robustness of a Corneal Endothelial Cell Segmentation Method Based on Merging Superpixels
Clinical parameters related to the corneal endothelium can only be estimated by segmenting endothelial cell images. Specular microscopy is the current standard technique to image the endothelium, but its low S...
-
Article
Identification of context-dependent expression quantitative trait loci in whole blood
Bastiaan Heijmans, Peter ’t Hoen, Lude Franke and colleagues describe a strategy to identify context-dependent expression quantitative trait loci (eQTLs). They apply their method to peripheral blood RNA–seq da...
-
Article
Disease variants alter transcription factor levels and methylation of their binding sites
Peter 't Hoen, Lude Franke, Bastiaan Heijmans and colleagues present a combined analysis of methylome and transcriptome data from a large collection of whole-blood samples to infer the downstream effects of di...
-
Article
Open AccessThe transcriptional landscape of age in human peripheral blood
Disease incidences increase with age, but the molecular characteristics of ageing that lead to increased disease susceptibility remain inadequately understood. Here we perform a whole-blood gene expression met...
-
Article
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Human population genomic studies, including whole‐genome sequencing, were undertaken to identify determinants of bone mineral density (BMD), a major predictor of osteoporotic fractures. Non‐coding variants wit...
-
Article
Clinical presentation and morbidity of contact lens–associated microbial keratitis: a retrospective study
To investigate the clinical presentation, isolated organism, treatment, and morbidity of contact lens–associated microbial keratitis needing hospitalization.
