Publications
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Quantifying next generation sequencing sample pre-processing bias in HIV-1 complete genome sequencing KU Leuven
Genetic analyses play a central role in infectious disease research. Massively parallelized “mechanical cloning” and sequencing technologies were quickly adopted by HIV researchers in order to broaden the understanding of the clinical importance of minor drug-resistant variants. These efforts have, however, remained largely limited to small genomic regions. The growing need to monitor multiple genome regions for drug resistance testing, as well ...
Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations Ghent University
A hidden Markov-model for gene mapping based on whole-genome next generation sequencing data Hasselt University
The analysis of polygenic, phenotypic characteristics such as quantitative traits or inheritable diseases requires reliable scoring of many genetic markers covering the entire genome. The advent of high-throughput sequencing technologies provides a new way to evaluate large numbers of single nucleotide polymorphisms as genetic markers. Combining the technologies with pooling of segregants, as performed in bulk segregant analysis, should, in ...
Dealing with pseudogenes in in the next generation sequencing era Ghent University
Presence of pseudogenes is a dreadful issue in next generation sequencing (NGS), because their contamination can interfere with the detection of variants in the genuine gene and generate false positive and false negative variants. In this chapter we focus on issues related to the application of NGS strategies for analysis of genes with pseudogenes in a clinical setting. The degree to which a pseudogene impacts the ability to accurately detect ...
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform Ghent University University of Antwerp
Next generation sequencing of microRNAs from isogenic neuroblastoma cell lines isolated before and after treatment Ghent University
Characterization and diversity of 243 complete human papillomavirus genomes in cervical swabs using next generation sequencing Ghent University
Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics KU Leuven
High-throughput nucleotide sequencing (often referred to as next generation sequencing) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. ...