A5025707447- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Metabolism and Genetic Disorders
- Radiomics and Machine Learning in Medical Imaging
- Chromosomal and Genetic Variations
- Mitochondrial Function and Pathology
- Animal Genetics and Reproduction
- Genomics and Rare Diseases
- Cancer Cells and Metastasis
- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- AI in cancer detection
Oncode Institute
2022-2025
The Netherlands Cancer Institute
2025
Utrecht University
2021-2022
University Medical Center Utrecht
2021-2022
University of Bonn
2007
Abstract Central to tumor evolution is the generation of genetic diversity. However, extent and patterns by which de novo karyotype alterations emerge propagate within human tumors are not well understood, especially at single-cell resolution. Here, we present 3D Live-Seq—a protocol that integrates live-cell imaging organoid outgrowth whole-genome sequencing each imaged cell reconstruct evolving karyotypes across consecutive generations. Using patient-derived colorectal cancer organoids...
Ductal carcinoma in situ (DCIS) may progress to ipsilateral invasive breast cancer (iIBC), but often never will. Because DCIS is treated as early cancer, many women with harmless face overtreatment. To identify features associated progression, we developed an artificial intelligence-based morphometric analysis pipeline (AIDmap) on hematoxylin-eosin-stained (H&E) tissue sections. We analyzed 689 digitized H&Es of pure primary which 226 were diagnosed subsequent iIBC and 463 not. The...
CRISPR-associated nucleases are powerful tools for precise genome editing of model systems, including human organoids. Current methods describing fluorescent gene tagging in organoids rely on the generation DNA double-strand breaks (DSBs) to stimulate homology-directed repair (HDR) or non-homologous end joining (NHEJ)-mediated integration desired knock-in. A major downside associated with DSB-mediated is required clonal selection and expansion candidate verify genomic integrity targeted...
Background: We studied three patients with evidence of mitochondrial disease for mutations in the nuclear DNA (mtDNA) polymerase gamma gene (POLG1). Two (pat.1, 2) presented Alpers syndrome (refractory epilepsy, developmental delay, liver failure), while third patient (pat. 3) had chronic progressive external ophthalmoplegia (CPEOplus) first symptoms early adulthood, but no involvement.