Publications
Validation and application of a custom-designed targeted next-generation sequencing panel for the diagnostic mutational profiling of solid tumors University of Antwerp
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population University of Antwerp
New mutational mechanisms in ABCA7 influence Alzheimer's disease University of Antwerp
Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells Vrije Universiteit Brussel KU Leuven
Massive parallel sequencing (MPS) can accurately quantify mitochondrial DNA (mtDNA) single nucleotide variants (SNVs), but no MPS methods are currently validated to simultaneously and accurately establish the breakpoints and frequency of large deletions at low heteroplasmic loads. Here we present the thorough validation of an MPS protocol to quantify the load of very low frequency, large mtDNA deletions in bulk DNA and single cells, along ...
Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations Vrije Universiteit Brussel University of Antwerp
Background: Detection of tumor-specific alterations in cell-free DNA (cfDNA) has proven valuable as a liquid biopsy for several types of cancer. So far, use of cfDNA remains unexplored for pancreatic neuroendocrine tumor (PNET) patients. Methods: From 10 PNET patients, fresh frozen tumor tissue, buffy coat and plasma samples were collected. Whole-exome sequencing of primary tumor and germline DNA was performed to identify tumor-specific ...
Hybridisation thermodynamic parameters allow accurate detection of point mutations with DNA microarrays Hasselt University KU Leuven
Tumor-specific genetic variants can be detected in circulating cell-free DNA of malignant pleural mesothelioma patients Vrije Universiteit Brussel University of Antwerp
OBJECTIVES: Patients diagnosed with malignant pleural mesothelioma (MPM) face a poor prognosis, with an overall survival plateauing at a median of one year. This can be explained by difficulties in early diagnosis, effective treatment and treatment monitoring. Circulating cell-free tumor DNA (ctDNA) is emerging as an interesting biomarker addressing some of these issues. So far, the development of ctDNA in MPM lags behind that in other ...