Willem Hendrik Ouwehand

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases

The paper uses polygenic scores to identify plasma proteins causally linked to cardiometabolic diseases and finds some are targets for existing therapies.

Circular RNAs exhibit limited evidence for translation, or translation regulation of the mRNA-counterpart in terminal hematopoiesis

The paper analyzes circRNA expression during hematopoietic differentiation and finds limited evidence for their translation or regulatory role in erythroid and megakaryoid cells.

Genetically predicted levels of the human plasma proteome and risk of stroke: a Mendelian Randomization study

This study uses Mendelian randomization to identify plasma proteins associated with stroke risk and potential therapeutic targets.

ACE inhibition and cardiometabolic risk factors, lung ACE2 and TMPRSS2 gene expression, and plasma ACE2 levels: a Mendelian randomization study

This study uses Mendelian randomization to examine if ACE inhibitors or cardiometabolic risk factors affect lung ACE2 and TMPRSS2 expression or plasma ACE2 levels, finding no overall association.

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

Population-scale proteome variation in human induced pluripotent stem cells

The paper characterizes proteome variation across 202 human iPSC lines, identifies 700 pQTLs, and links pQTLs to disease-associated GWAS variants.

The influence of rare variants in circulating metabolic biomarkers

The paper identifies novel gene-trait associations and pathways involving rare variants in metabolic biomarkers linked to cardiovascular disease risk.

Learning polygenic scores for human blood cell traits

This study compares machine learning and univariate methods for constructing polygenic scores for 26 blood cell traits using UK Biobank and INTERVAL data, showing improved performance with learning methods.

Single-cell RNA-seq of differentiating iPS cells reveals dynamic genetic effects on gene expression

The paper uses single-cell RNA-seq of differentiating iPS cells from 125 donors to identify expression quantitative trait loci influencing gene expression during endoderm differentiation.

Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas.

The paper identifies novel long non-coding RNAs and circular RNAs in hematopoietic cells using BLUEPRINT consortium data, highlighting their cell type specificity.

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

Genetic determinants of risk and survival in pulmonary arterial hypertension

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

DNA methylation oscillation defines classes of enhancers

The paper identifies DNA methylation oscillations as a marker for enhancer classification, showing high predictive power compared to other methods.

Consequences Of Natural Perturbations In The Human Plasma Proteome

The paper identifies 1,927 genetic associations with 1,478 plasma proteins using 10.6 million DNA variants and 3,301 individuals, revealing new drug targets and safety concerns.

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

Comparative analysis of neutrophil and monocyte epigenomes

This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.

Chromosome contacts in activated T cells identify autoimmune disease candidate genes

The paper identifies autoimmune disease candidate genes by integrating promoter capture Hi-C data with genetic associations in activated CD4+ T cells.