A5051454986- Genetic Associations and Epidemiology
- Genetic factors in colorectal cancer
- Bioinformatics and Genomic Networks
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetic and phenotypic traits in livestock
- Lung Cancer Treatments and Mutations
- Hair Growth and Disorders
- Herpesvirus Infections and Treatments
- Biomedical Text Mining and Ontologies
- Radiopharmaceutical Chemistry and Applications
- Viral Infections and Immunology Research
- Diverse Scientific and Economic Studies
- Psychological Well-being and Life Satisfaction
- RNA Research and Splicing
- Advanced Proteomics Techniques and Applications
- interferon and immune responses
- Poxvirus research and outbreaks
- SARS-CoV-2 and COVID-19 Research
- RNA regulation and disease
- Folate and B Vitamins Research
- Cytomegalovirus and herpesvirus research
- Cultural Differences and Values
- Cancer-related molecular mechanisms research
- Nutritional Studies and Diet
University of Bonn
2019-2025
Center for Human Genetics
2024
University Hospital Bonn
2021-2024
University of Wisconsin–Madison
2022
Bonn Aachen International Center for Information Technology
2019
Fraunhofer Institute for Algorithms and Scientific Computing
2019
Qatar University
2018
Weill Cornell Medical College in Qatar
2018
Abstract Background and aims Summarised in polygenic risk scores (PRS), the effect of common, low penetrant genetic variants associated with colorectal cancer (CRC), can be used for stratification. Methods To assess combined impact PRS other main factors on CRC risk, 163,516 individuals from UK Biobank were stratified as follows: 1. carriers status germline pathogenic (PV) susceptibility genes ( APC, MLH1, MSH2, MSH6, PMS2) , 2. (< 20%), intermediate (20–80%), or high (> 80%), 3....
Hypertension is a critical public health issue worldwide. The identification of specific proteomic biomarkers in the Qatari population aims to advance personalized treatment strategies. We conducted profiling on 778 individuals using an aptamer-based SOMAscan platform analyze 1,305 biomarkers. Statistical analysis involved two-way ANOVA and association analyses with FDR correction, alongside pathway gene-set enrichment Reactome DisGeNET databases. study identified 26 significant protein...
The rapid accumulation of new biomedical literature not only causes curated knowledge graphs (KGs) to become outdated and incomplete, but also makes manual curation an impractical unsustainable solution. Automated or semi-automated workflows are necessary assist in prioritizing curating the update enrich KGs. We have developed two workflows: one for re-curating a given KG assure its syntactic semantic quality another rationally enriching it by manually revising automatically extracted...
There are limited data on herpes simplex virus type 2 (HSV-2) seroprevalence in the Middle East and North Africa (MENA). We examined country- age-specific HSV-2 among select MENA populations residing Qatar.Sera were collected from male blood donors attending Hamad Medical Corporation between June 2013 2016. Specimens screened for anti-HSV-2 IgG antibodies following a 2-test algorithm: HerpeSelect ELISA was used to identify HSV-2-positive specimens, Euroline-WB confirm positive equivocal...
Male-pattern hair loss (MPHL) is common and highly heritable. While genome-wide association studies (GWAS) have generated insights into the contribution of variants to MPHL etiology, relevance rare remains unclear. To determine we perform gene-based single-variant analyses in exome-sequencing data from 72,469 male UK Biobank participants. our population-level risk prediction suggests that make only a minor general risk, variant collapsing tests identified total five significant gene...
Abstract Background A relevant part of the genetic architecture complex traits is still unknown; despite discovery many disease-associated common variants. Polygenic risk score (PRS) models are based on evaluation additive effects attributable to variants and have been successfully implemented assess susceptibility for phenotypes. In contrast, burden tests often used identify an enrichment rare deleterious in specific genes. Both kinds contributions typically analyzed independently. Many...
The number of diagnostic assays for the detection herpes simplex virus type 1 (HSV-1) antibodies has increased over years. However, their performance characteristics could vary among global populations. To investigate two commercial ELISA kits, HerpeSelect® and Euroimmun Anti-HSV-1 (gC1) (IgG); immunoblot (IB)/Western blot (WB) assays, 2 Immunoblot IgG, Anti-HSV-1/HSV-2 gG2 Euroline-WB (IgG/IgM); in detecting HSV-1 a Middle East North Africa (MENA) population. Blood specimens were collected...
Neuroticism, extraversion, and conscientiousness are the most notable personality predictors of subjective well-being (SWB) in phenotypic behavior genetic studies. We aim to quasi-replicate extend previous findings. Using data from German twin family panel TwinLife, we analyzed Big Five traits life satisfaction 3,080 pairs three birth cohorts (born 2003/04, 1997/98, 1990–93). Prior research has repeatedly provided evidence that variance largely explained SWB. Our results replicated this...
The genetic architecture of complex traits can be influenced by both many common regulatory variants with small effect sizes and rare deleterious in coding regions larger sizes. However, the two kinds contributions are typically analyzed independently. Here, we present GenRisk, a python package for computation integration gene scores based on burden common-variants-based polygenic risk scores. derived within GenRisk to perform association tests or derive phenotype prediction models testing...
Polygenic risk score (PRS) predictions often show bias toward the population of available genome-wide association studies (GWASs), which is typically European ancestry. This study aimed to assess performance differences ancestry-specific PRS and test implementation multi-ancestry enhance generalizability low-density lipoprotein (LDL) cholesterol in East Asian (EAS) population. In this study, we computed PRSs for LDL using data obtained from Global Lipid Genetics Consortium, while accounting...
Background Several rare and common variants are associated with Parkinson’s disease. However, there is still an incomplete penetrance in the carriers of To address this issue, we investigated whether a PRS calculated from significant GWAS SNPs affects disease among monogenic known genes those family history. Methods We based on selected by using exome data UK Biobank. Individuals were divided into three risk categories PRS: low (<10%), intermediate (10%-90%), high (>90%) groups. then...
Abstract The rapid accumulation of new biomedical literature not only causes curated knowledge graphs to become outdated and incomplete, but also makes manual curation an impractical unsustainable solution. Automated or semi-automated workflows are necessary assist in prioritizing curating the update enrich graphs. We have developed two workflows: one for re-curating a given graph assure its syntactic semantic quality another rationally enriching it by manually revising automatically...
Courses of SARS-CoV-2 infections are highly variable, ranging from asymptomatic to lethal COVID-19. Though research has shown that host genetic factors contribute this variability, cohort-based joint analyses variants the entire allelic spectrum in individuals with confirmed still lacking. Here, we present results whole genome sequencing 1,220 mainly vaccine-naïve infection, including 827 hospitalized COVID-19 cases. We observed presence autosomal-recessive or likely compound heterozygous...
Abstract Background: A relevant part of the genetic architecture complex traits is still unknown; despite discovery many disease-associated common variants. Polygenic risk score (PRS) models are based on theevaluation additive effects attributable to variants and have been successfully implemented assess susceptibility for phenotypes. In contrast, burden tests often used identify an enrichment rare deleterious in specific genes. Both kinds contributions typically analyzed independently. Many...
Abstract Background and aims Summarised in polygenic risk scores (PRS), the effect of common, low penetrant genetic variants associated with colorectal cancer (CRC), can be used for stratification. Methods To assess combined impact PRS other main factors on CRC risk, 163,516 individuals from UK Biobank were stratified as follows: 1. carriers status germline pathogenic (PV) susceptibility genes ( APC, MLH1, MSH2, MSH6, PMS2) , 2. (<20%), intermediate (20-80%), or high (>80%), 3. family...
Abstract Background & Aims: Summarised in polygenic risk scores (PRS), the effect of common, low penetrant genetic variants associated with colorectal cancer (CRC), can be used for stratification. Methods : To assess combined impact PRS and other main factors on CRC risk, 163,516 individuals from UK Biobank were stratified as follows: 1. carriers status germline pathogenic (PV) susceptibility genes ( APC, MLH1, MSH2, MSH6, PMS2) , 2. (<20%), intermediate (20-80%), or high (>80%),...
Abstract Background Polygenic risk scores (PRSs) are proposed for use in clinical and research settings stratification. PRS predictions often show bias toward the population of available genome-wide association studies, which is typically European ancestry. This study aims to assess performance differences ancestry-specific test implementation multi-ancestry enhance generalizability low-density lipoprotein (LDL) cholesterol East Asian Methods We computed LDL using data from global lipid...
Abstract Purpose Investigate to which extent polygenic risk scores (PRS), high-impact monogenic variants, and family history affect breast prostate cancer by assessing prevalence cumulative lifetime incidence. Methods 200,643 individuals from the UK Biobank were stratified as follows: 1. carriers or non-carriers of high impact constitutive, variants in susceptibility genes, 2. non-high PRS (90th percentile threshold), 3. with without a cancer. Multivariable logistic regression was used...