The aim of this thesis is to assess the reliability and accuracy of Miedema's clay-cutting model by critically examining its underlying assumptions and investigating potential discrepancies. The research questions revolve around identifying the inconsistencies in nomenclature, evaluating the chosen strain …

Seaweeds from the genus Porphyra play a big economic role in seaweed aquaculture, mainly in Asia. In Europe, resources are put towards seaweed cultivation, but without attention to the Porphyra species which is also native to Europe. Different nomenclature and specifications are used to describe Porphyra, …

Inleiding Niet-aangeboren hersenletsel (NAH) kan verstrekkende gevolgen hebben, waaronder problemen in de communicatie. Cognitieve communicatiestoornissen (CCS) zijn communicatiestoornissen, die geen afasie zijn. CCS worden meestal tijdens maar voornamelijk na de revalidatie na NAH herkend. Revalideren …

Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information …

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature …

There is now a convergence of two modes of genetic testing, that of testing a few candidate genes at a time based on suspicion of a specific genetic disease, and that of genomic testing, especially when a candidate gene(s) is not suspected or known. Both aim to interpret pathogenicity of identified genetic …

Purpose: Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to her child with congenital abnormalities probably caused by de novo copy-number changes of dosage …

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 …

The architecture of TP 53 , the most frequently mutated gene in human cancer, is more complex than previously thought. Using TP 53 variants as clinical biomarkers to predict response to treatment or patient outcome requires an unequivocal and standardized procedure toward a definitive strategy for the …