A5082059548- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- T-cell and B-cell Immunology
- Biomedical Text Mining and Ontologies
- Immune Cell Function and Interaction
- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Lung Cancer Treatments and Mutations
- Single-cell and spatial transcriptomics
- Gene Regulatory Network Analysis
- Multiple Myeloma Research and Treatments
- Immune Response and Inflammation
- Bioinformatics and Genomic Networks
- Cancer Immunotherapy and Biomarkers
- Cancer Treatment and Pharmacology
- Cell Image Analysis Techniques
- Molecular Communication and Nanonetworks
- Gastrointestinal Tumor Research and Treatment
- Immunotherapy and Immune Responses
- Molecular Biology Techniques and Applications
- Atherosclerosis and Cardiovascular Diseases
- BRCA gene mutations in cancer
- Gastric Cancer Management and Outcomes
- Chronic Lymphocytic Leukemia Research
- Gene expression and cancer classification
Humboldt-Universität zu Berlin
2010-2025
Charité - Universitätsmedizin Berlin
2017-2025
Freie Universität Berlin
2020-2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2022-2025
German Cancer Research Center
2025
Heidelberg University
2025
Humboldt State University
2008
Clinical interpretation of complex biomarkers for precision oncology currently requires manual investigations previous studies and databases. Conversational large language models (LLMs) might be beneficial as automated tools assisting clinical decision-making.
PURPOSE Precision oncology depends on the availability of up-to-date, comprehensive, and accurate information about associations between genetic variants therapeutic options. Recently, a number knowledge bases (KBs) have been developed that gather such basis expert curation scientific literature. We performed quantitative qualitative comparison Clinical Interpretations Variants in Cancer, OncoKB, Cancer Gene Census, Database Curated Mutations, CGI Biomarkers (the cancer genome interpreter...
With an increased uptake of genomic profiling in clinical practice and the evolving complexity diagnostic modalities, vast amounts complex data need to be properly interpreted integrated into individualised care plan. To address these challenges, molecular tumour boards (MTBs) have been widely established. As today, no international recommendations regulating composition workflows MTBs defined. ESMO's Precision Oncology Working Group (POWG) established expert panel precision oncology defined...
Abstract Background: Incidence rates of early-onset colorectal cancer (EO-CRC) are increasing in high-income countries, yet the underlying causes and optimal clinical management strategies remain unclear. Methods: Comprehensive molecular profiling was conducted on patients enrolled DKTK MASTER program, which includes with fresh tumor material, age <50 years, and/or rare types. Profiling utilized RNA sequencing (RNA-seq) whole-exome (WES) or whole-genome (WGS). WES data analyzed for...
The detection of somatic mutagenesis in normal tissues has transformed our understanding clonal evolution, revealing a mosaic mutations, including those cancer driver genes, that influence cellular behavior and tissue homeostasis. However, key questions remain about how these mutational patterns contribute to tumorigenesis the role mutations transition from malignant states. To address this, we performed combined computational analysis largest normal-tissue DNA-sequencing clinical dataset...
Structured and harmonized implementation of molecular tumor boards (MTB) for the clinical interpretation data presents a current challenge precision oncology. Heterogeneity in was shown patients even with limited number alterations. Integration high-dimensional data, including RNA- (RNA-Seq) whole-exome sequencing (WES), is expected to further complicate application. To analyze challenges MTB harmonization based on complex datasets, we retrospectively compared WES RNA-Seq by two independent...
Abstract Multiple myeloma (MM) is a plasma cell malignancy of the bone marrow. Despite therapeutic advances, MM remains incurable, and better risk stratification as well new therapies are therefore highly needed. The proteome has not been systematically assessed before holds potential to uncover insight into disease biology improved prognostication in addition genetic transcriptomic studies. Here we provide comprehensive multiomics analysis including deep tandem mass tag-based quantitative...
The transcriptomes of several cyanobacterial strains have been shown to exhibit diurnal oscillation patterns reflecting the phototrophic lifestyle organisms. analysis such genome-wide transcriptional oscillations is often facilitated by use clustering algorithms in conjunction with a number pre-processing steps. Biological interpretation usually focused on time and phase expression resulting groups genes. However, microarray technology studies requires normalization data, unclear impact...
Abstract Objective The objective was to develop a dataset definition, information model, and FHIR® specification for key data elements contained in German molecular genomics (MolGen) report facilitate genomic phenotype integration electronic health records. Materials Methods A dedicated expert group participating the Medical Informatics Initiative reviewed MolGen reports, determined elements, formulated definition. HL7’s Genomics Reporting Implementation Guide (IG) adopted as basis which...
Cells rely on input from extracellular growth factors to control their proliferation during development and adult homeostasis. Such mitogenic inputs are transmitted through multiple signaling pathways that synergize precisely regulate cell cycle entry progression. Although the architecture of these networks has been characterized in molecular detail, relative contribution, especially at later stages, remains largely unexplored. By combining quantitative time-resolved measurements fluorescent...
ORIGINAL RESEARCH article Front. Immunol., 27 August 2012Sec. T Cell Biology Volume 3 - 2012 | https://doi.org/10.3389/fimmu.2012.00264
The cytokine IL-2 performs opposite functions supporting efficient immune responses and playing a key role in peripheral tolerance. Therefore, precise fine-tuning of expression is crucial for adjusting the response. Combining transcription factor analysis at single cell nucleus level using flow cytometry with statistical analysis, we showed that physiological differences levels c-Fos NFATc2, but not c-Jun NF-κBp65, are limiting decision whether expressed strongly activated human memory...
Naive T-helper (Th) cells differentiate into distinct lineages including Th1, Th2, Th17 and regulatory T (Treg) cells. Each of these Th-lineages has specific functions in immune defense cell homeostasis. Th fate decisions commitment are dependent on the kind strength stimulation subsequent gene expression profiles. Our analysis targeted identification new transcription factor binding sites (TFBSs) promoter regions up- down-regulated genes Treg differentiation lineage maintenance. For this...
Abstract Motivation In precision oncology (PO), clinicians aim to find the best treatment for any patient based on their molecular characterization. A major bottleneck is manual annotation and evaluation of individual variants, which usually a range knowledge bases are screened. To incorporate integrate vast information different databases, fast accurate methods harmonizing databases with types necessary. An essential step harmonization in PO includes normalization tumor entities as well...
Abstract A patient with gastrointestinal stroma tumor (GIST) and KIT p.V559D BRAF p.G469A alterations was referred to our institutional molecular board (MTB) discuss therapeutic implications. The had been diagnosed B-cell chronic lymphocytic leukemia (CLL) years prior the MTB presentation. GIST 1 month earlier. After structured clinical annotation of interdisciplinary discussion, we considered BRAF/KIT co-mutation unlikely in a treatment-naïve GIST. Discordant variant allele frequencies...
3066 Background: Personalized cancer therapy based on molecular tumor aberrations has shown efficacy in a subset of tumors. Novel biomarkers are warranted to help extend this benefit larger patient population. Tumor mutational burden (TMB) is an established predictive biomarker for immune checkpoint inhibition. Its role molecularly matched unknown. Methods: Comprehensive profiling including whole-exome and RNA-sequencing was performed 104 patients with advanced within the DKTK MASTER...