Christian Benner
A5050935347- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Smoking Behavior and Cessation
- Nutrition and Health in Aging
- GDF15 and Related Biomarkers
- RNA modifications and cancer
- Genetics and Plant Breeding
- Liver Disease Diagnosis and Treatment
- Suicide and Self-Harm Studies
- RNA and protein synthesis mechanisms
- Neuroscience of respiration and sleep
- Asthma and respiratory diseases
- Cancer, Lipids, and Metabolism
- Health Systems, Economic Evaluations, Quality of Life
- Lipoproteins and Cardiovascular Health
- Cancer Genomics and Diagnostics
- Hearing, Cochlea, Tinnitus, Genetics
- Nicotinic Acetylcholine Receptors Study
- Single-cell and spatial transcriptomics
Institute for Molecular Medicine Finland
2014-2024
University of Helsinki
2014-2024
Finland University
2014-2022
Regeneron (United States)
2020-2022
Amsterdam UMC Location Vrije Universiteit Amsterdam
2012-2016
University Medical Center
2016
University Hospital and Clinics
2016
University of Georgia
1984
The goal of fine-mapping in genomic regions associated with complex diseases and traits is to identify causal variants that point molecular mechanisms behind the associations. Recent methods using summary data from genome-wide association studies rely on exhaustive search through all possible configurations, which computationally expensive.We introduce FINEMAP, a software package efficiently explore set most important configurations region via shotgun stochastic algorithm. We show FINEMAP...
Abstract A major goal in human genetics is to use natural variation understand the phenotypic consequences of altering each protein-coding gene genome. Here we used exome sequencing 1 explore protein-altering variants and their 454,787 participants UK Biobank study 2 . We identified 12 million coding variants, including around loss-of-function 1.8 deleterious missense variants. When these were tested for association with 3,994 health-related traits, found 564 genes trait associations at P ≤...
The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we provide detailed summary this initiative, including technical and biological validations, insights into disease signatures, prediction modelling for various demographic health indicators. We present comprehensive protein quantitative trait locus (pQTL) mapping 2,923 proteins that identifies 14,287 primary genetic associations,...
How genes affect human obesity Obesity is linked to many diseases, including diabetes, cancer, and heart disease. There thus great interest in understanding how predispose individuals to, or protect from, obesity. Akbari et al. sequenced more than 600,000 exomes from the United Kingdom, States, Mexico identified 16 rare coding variants (see Perspective by Yeo O'Rahilly). Some of alleles associated with body mass index (BMI) were brain-expressed G protein–coupled receptors. One variant allele...
Abstract The UK Biobank Pharma Proteomics Project (UKB-PPP) is a collaboration between the (UKB) and thirteen biopharmaceutical companies characterising plasma proteomic profiles of 54,306 UKB participants. Here, we describe results from first phase UKB-PPP, including protein quantitative trait loci (pQTL) mapping 1,463 proteins that identifies 10,248 primary genetic associations, which 85% are newly discovered. We also identify independent secondary associations in 92% cis 29% trans loci,...
Abstract Despite the great success of genome-wide association studies (GWAS) in identifying genetic loci significantly associated with diseases, vast majority causal variants underlying disease-associated have not been identified 1–3 . To create an atlas variants, we performed and integrated fine-mapping across 148 complex traits three large-scale biobanks (BioBank Japan 4,5 , FinnGen 6 UK Biobank 7,8 ; total n = 811,261), resulting 4,518 variant-trait pairs high posterior probability (>...
Hyperlipidemia is a highly heritable risk factor for coronary artery disease (CAD). While monogenic familial hypercholesterolemia associates with severely increased CAD risk, it remains less clear to what extent high polygenic load of large number LDL (low-density lipoprotein) cholesterol (LDL-C) or triglyceride (TG)-increasing variants risk. We derived scores (PRSs) ≈6M separately LDL-C and TG weights from UK Biobank-based genome-wide association study ≈324K samples. evaluated the impact...
Abstract Introduction With the improvement of therapeutic options for treatment breast cancer, development brain metastases has become a major limitation to life expectancy in many patients. Therefore, our aim was identify molecular markers associated with cancer. Methods Patterns chromosomal aberrations primary tumors and were compared array-comparative genetic hybridization (CGH). The most significant region further characterized more detail by microsatellite gene-expression analysis,...
Abstract Genome-wide association analysis of cohorts with thousands phenotypes is computationally expensive, particularly when accounting for sample relatedness or population structure. Here we present a novel machine learning method called REGENIE fitting whole genome regression model that orders magnitude faster than alternatives, while maintaining statistical efficiency. The naturally accommodates parallel multiple phenotypes, and only requires local segments the genotype matrix to be...
Hundreds of genetic associations for asthma have been identified, yet translating these findings into mechanistic insights remains challenging. We leveraged plasma proteomics from the UK Biobank Pharma Proteomics Project (UKB-PPP) to identify biomarkers and effectors risk or heterogeneity using causal inference approaches. identified 609 proteins associated with status (269 after controlling body mass index [BMI] smoking). Analysis genetically predicted protein levels 70 putative roles in...
Abstract Recent statistical approaches have shown that the set of all available genetic variants explains considerably more phenotypic variance complex traits and diseases than individual are robustly associated with these phenotypes. However, rapidly increasing sample sizes constantly improve detection prioritization driving associations between genomic regions Therefore, it is useful to routinely estimate how much detected explain for each region by taking into account correlation...
Here we analyzed whole-genome sequences of 3,969 influenza A(H1N1)pdm09 and 4,774 A(H3N2) strains that circulated during 2009–2015 in the world. The analysis revealed changes at 481 533 amino acid sites proteins strains, respectively. Many these were introduced as a result random drift. However, there 61 68 present relatively large number respectively, long time. We named substitutions evolutionary markers, they seemed to contain valuable information regarding viral evolution. Interestingly,...