Harm-Jan Westra
A5047168944- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- Single-cell and spatial transcriptomics
- RNA modifications and cancer
- Erythrocyte Function and Pathophysiology
- Systemic Lupus Erythematosus Research
- Gene expression and cancer classification
- Cancer Genomics and Diagnostics
- Genetic and phenotypic traits in livestock
- T-cell and B-cell Immunology
- Diabetes and associated disorders
- RNA Research and Splicing
- Cancer-related molecular mechanisms research
- Immune Cell Function and Interaction
- Helicobacter pylori-related gastroenterology studies
- Inflammatory Bowel Disease
- Cognitive Abilities and Testing
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Health, Environment, Cognitive Aging
- Epigenetics and DNA Methylation
- Adipose Tissue and Metabolism
- Chronic Lymphocytic Leukemia Research
University Medical Center Groningen
2013-2024
University of Groningen
2013-2024
Oncode Institute
2020-2024
Brigham and Women's Hospital
2014-2024
Harvard University
2014-2024
Broad Institute
2015-2024
Center for Systems Biology
2018-2019
Center for Rheumatology
2018
Mass General Brigham
2014-2017
Harvard University Press
2016
The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize most likely causal at associated loci, highlight enriched identify tissues/cell types where loci are highly expressed. DEPICT not limited with established prioritizes relevant sets many phenotypes.
Summary While many disease-associated variants have been identified through genome-wide association studies, their downstream molecular consequences remain unclear. To identify these effects, we performed cis- and trans-expression quantitative trait locus (eQTL) analysis in blood from 31,684 individuals the eQTLGen Consortium. We observed that cis -eQTLs can be detected for 88% of studied genes, but they a different genetic architecture compared to variants, limiting our ability use pinpoint...
For many complex traits, genetic variants have been found associated. However, it is still mostly unclear through which downstream mechanism these cause phenotypes. Knowledge of intermediate steps crucial to understand pathogenesis, while also providing leads for potential pharmacological intervention. Here we relied upon natural human variation identify effects on trans-gene expression (expression quantitative trait locus mapping, eQTL) in whole peripheral blood from 1,469 unrelated...
Recently it has become clear that only a small percentage (7%) of disease-associated single nucleotide polymorphisms (SNPs) are located in protein-coding regions, while the remaining 93% gene regulatory regions or intergenic regions. Thus, understanding how genetic variations control expression non-coding RNAs (in tissue-dependent manner) far-reaching implications. We tested association SNPs with levels (eQTLs) large (lincRNAs), using genome-wide and genotype data from five different...
Abstract Genome-wide association studies (GWAS) have identified thousands of variants associated with complex traits, but their biological interpretation often remains unclear. Most these overlap expression QTLs, indicating potential involvement in regulation gene expression. Here, we propose a transcriptome-wide summary statistics-based Mendelian Randomization approach (TWMR) that uses multiple SNPs as instruments and traits exposures, simultaneously. Applied to 43 human phenotypes, it...
It is known that genetic variants can affect gene expression, but it not yet completely clear through what mechanisms variation mediate this expression. We therefore compared the cis-effect of single nucleotide polymorphisms (SNPs) on expression between blood samples from 1,240 human subjects and four primary non-blood tissues (liver, subcutaneous, visceral adipose tissue skeletal muscle) 85 subjects. characterized different for 2,072 probes show tissue-dependent regulation tissues: average...
Identification of therapeutic targets from genome-wide association studies (GWAS) requires insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing samples 14 brain datasets to create the MetaBrain resource and performed cis- trans-expression quantitative trait locus (eQTL) meta-analyses in multiple region- ancestry-specific (n ≤ 2,759). Many 16,169 cortex cis-eQTLs were tissue-dependent when compared with blood cis-eQTLs. inferred cell types for 3,549 by...