Jeroen F. J. Laros

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— Narrative reports and criminal records are stored digitally across individual police departments, enabling the collection of this data to compile a nationwide database of criminals and the crimes they committed. The compilation of this data through the last years presents new possibilities of analyzing criminal activity through time. Augmenting the(More)
The bulk of familial breast cancer risk (∼70%) cannot be explained by mutations in the known predisposition genes, primarily BRCA1 and BRCA2. Underlying genetic heterogeneity in these cases is the probable explanation for the failure of all attempts to identify further high-risk alleles. While exome sequencing of non-BRCA1/2 breast cancer cases is a(More)
We introduce <i>CLI-mate</i>, a framework to facilitate development of user-friendly interfaces for command line programs. In the agile development environment of <i>bioinformatics</i>, many command line programs are created quickly to fill the gaps between complex information processes. A <i>command line interface</i> (CLI) is sometimes sufficient for the(More)
MOTIVATION Unambiguous sequence variant descriptions are important in reporting the outcome of clinical diagnostic DNA tests. The standard nomenclature of the Human Genome Variation Society (HGVS) describes the observed variant sequence relative to a given reference sequence. We propose an efficient algorithm for the extraction of HGVS descriptions from two(More)
High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of potential gene-disease associations) and the accelerating rate of data production necessitate computational(More)
  • Anne M. L. Jansen, Marije A. Geilenkirchen, Tom van Wezel, Shantie C. Jagmohan-Changur, Dina Ruano, Heleen M. van der Klift +12 others
  • 2016
BACKGROUND AND AIMS Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no pathogenic MMR germline variant can be identified, which leads to difficulties in clinical management. We(More)
With the widespread use of Next Generation Sequencing technologies, the primary bottleneck of genetic research has shifted from data production to data analysis. However, heterogeneous data sets makes comparisons and integration challenging and time consuming. Here, we apply a data interoperability approach that provides unambiguous (machine readable)(More)
MOTIVATION Advances in sequencing technologies and computational algorithms have enabled the study of genomic variants to dissect their functional consequence. Despite this unprecedented progress, current tools fail to reliably detect and characterize more complex allelic variants, such as short tandem repeats (STRs). We developed TSSV as an efficient and(More)