A5002071945- Acute Myeloid Leukemia Research
- Biomedical Text Mining and Ontologies
- Electronic Health Records Systems
- Acute Lymphoblastic Leukemia research
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Scientific Computing and Data Management
- Clinical practice guidelines implementation
- Gene expression and cancer classification
- Single-cell and spatial transcriptomics
- Chronic Myeloid Leukemia Treatments
- Dermatology and Skin Diseases
- Data Quality and Management
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Genomics and Rare Diseases
- Histone Deacetylase Inhibitors Research
- Semantic Web and Ontologies
- Ethics in Clinical Research
- Molecular Biology Techniques and Applications
- Urticaria and Related Conditions
- Allergic Rhinitis and Sensitization
- Myeloproliferative Neoplasms: Diagnosis and Treatment
Heidelberg University
2002-2025
University Hospital Heidelberg
2002-2025
University of Münster
2015-2024
European Research Center for Information Systems
2015-2024
European Research Services
2024
Universitätsmedizin Göttingen
2024
University Hospital Münster
2012-2023
Technical University of Košice
2023
Institute for Medical Informatics and Biostatistics
2011-2020
Institute of Informatics of the Slovak Academy of Sciences
2016-2020
High-throughput DNA sequencing significantly contributed to diagnosis and prognostication in patients with myelodysplastic syndromes (MDS). We determined the biological prognostic significance of genetic aberrations MDS. In total, 944 various MDS subtypes were screened for known/putative mutations/deletions 104 genes using targeted deep array-based genomic hybridization. 845/944 (89.5%) harbored at least one mutation (median, 3 per patient; range, 0-12). Forty-seven mutated TET2, SF3B1,...
Abstract Single-cell atlases often include samples that span locations, laboratories and conditions, leading to complex, nested batch effects in data. Thus, joint analysis of atlas datasets requires reliable data integration. To guide integration method choice, we benchmarked 68 preprocessing combinations on 85 batches gene expression, chromatin accessibility simulation from 23 publications, altogether representing >1.2 million cells distributed 13 atlas-level tasks. We evaluated methods...
Purpose Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy that characterized by features of both myeloproliferative neoplasm and myelodysplastic syndrome. Thus far, data on comprehensive cytogenetic or molecular genetic characterization are limited. Patients Methods Here, we analyzed 81 thoroughly patients with CMML (CMML type 1, n = 45; 2, 36) applying next-generation sequencing (NGS) technology to investigate CBL, JAK2, MPL, NRAS, KRAS at known mutational hotspot...
Bisulfite sequencing is currently the gold standard to obtain genome-wide DNA methylation profiles in eukaryotes. In contrast rapid development of appropriate pre-processing and alignment software, methods for analyzing resulting are relatively limited so far. For instance, an pipeline detect differences between cancer control samples still required.We propose algorithm that detects significantly differentially methylated regions data obtained by targeted bisulfite approaches, such as...
Abstract Background The term prurigo has been used for many decades in dermatology without clear definition, and currently terminology of is inconsistent confusing. Especially, itch‐related remains unexplored regarding the epidemiology, clinical profile, natural course, underlying causes, available treatments economic burden, although burdensome difficult to treat. Objective To address these issues, multicentre European Prurigo Project (EPP) was designed increase knowledge on chronic (CPG)....
Abstract Valid variant calling results are crucial for the use of next-generation sequencing in clinical routine. However, there numerous tools that usually differ algorithms, filtering strategies, recommendations and thus, also output. We evaluated eight open-source regarding their ability to call single nucleotide variants short indels with allelic frequencies as low 1% non-matched data: GATK HaplotypeCaller, Platypus, VarScan, LoFreq, FreeBayes, SNVer, SAMtools VarDict. analysed two real...
Acute myeloid leukemia (AML) is a heterogeneous group of genetically defined diseases. Their classification important with regard to prognosis and treatment. We performed microarray analyses for gene expression profiling on bone marrow samples 37 patients newly diagnosed AML. All cases had either the distinct subtypes AML M2 t(8;21), M3 or M3v t(15;17), M4eo inv(16). Diagnosis was established by cytomorphology, cytogenetics, fluorescence in situ hybridization, reverse transcriptase–PCR every...
Current massive transfusion guidelines are derived from washout equations that may not apply to bleeding trauma patients. Our aim was analyze these using a computer simulation.A combined hemodilution and hemodynamic model of an exsanguinating patient developed calculate the changes in prothrombin time (PT), fibrinogen, platelets with bleeding. The calibrated data 44 Time intervals subhemostatic values each coagulation test were calculated for range replacement options.Prolongation PT is...
Atrial fibrillation is associated with increased expression of ventricular myosin isoforms in atrial myocardium, regarded as part a dedifferentiation process. Whether reexpression restricted to transcripts encoding for contractile proteins unknown. Therefore, this study compares mRNA patients permanent sinus rhythm and gene using Affymetrix U133 arrays. In we identified 1434 genes deregulated fibrillation, the majority which, including key elements calcium-dependent signaling pathways,...
Abstract Cancer development is a dynamic process during which the successive accumulation of mutations results in cells with increasingly malignant characteristics. Here, we show clonal evolution pattern myelodysplastic syndrome (MDS) patients receiving supportive care, or without lenalidomide (follow-up 2.5–11 years). Whole-exome and targeted deep sequencing at multiple time points disease course reveals that both linear branched evolutionary patterns occur disease-modifying treatment. The...
Abstract Earlier in the past century, infections were regarded as most likely cause of childhood B-cell precursor acute lymphoblastic leukemia (pB-ALL). However, there is a lack relevant biologic evidence supporting this hypothesis. We present vivo genetic mechanistically connecting inherited susceptibility to pB-ALL and postnatal by showing that was initiated Pax5 heterozygous mice only when they exposed common pathogens. Strikingly, these murine pB-ALLs closely resemble human disease....