Publicaties
Gekozen filters:
Gekozen filters:
Improving the Golden-headed lion tamarin breeding schemes by establishing founder relatedness through combined microsatellite maker and pedigree analysis Koninklijke Maatschappij voor Dierkunde van Antwerpen Universiteit Hasselt
To conserve a self-sustaining captive population, the population must be genetically managed to minimize loss of genetic diversity, inbreeding and adaptation to captivity. Accurate genetic management of a captive population relies mostly on pedigree analysis. However, the majority of the pedigrees in captive breeding programs are far from perfect for various reasons. Most importantly, founders are assumed to be unrelated, often resulting in an ...
Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity KU Leuven Universiteit Antwerpen
Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were suggested for differentiating patrilineally related men as relevant in forensic genetics, anthropological genetics, and genetic genealogy. Empirical data are available for closely related males, while differentiation rates for more distant relatives are scarce. Available RM Y-STR mutation rate estimates are typically based on father-son pair data, while pedigree-based studies ...
Sustainable breeding of pedigree dogs KU Leuven
Breeding practices in purebred dogs are highly criticized since the BBC documentary in 2008. Selection for morphological extreme traits has resulted in various anatomical abnormalities and disorders in the pedigree dog population. Furthermore, selection for breed conformity further increased the number of disorders present in these breeds as a result of inbreeding practices and the use of few popular sires. As most dog breeds are closed ...
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20 KU Leuven
Background: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 40 different genes. Apart from TTN encoding the giant protein Titin, none of these genes have an expected diagnostic yield of more than 5% complicating genetic diagnosis. Whole exome sequencing (WES) is a powerful alternative for the identification of the causal gene, however variant interpretation remains challenging. We ...
Incomplete penetrance of the NOD2 E383K substitution among members of a Pediatric Granulomatous Arthritis pedigree KU Leuven
Pediatric granulomatous arthritis (PGA) has been associated with 12 different substitutions in the NOD2 gene thus far. We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution. Genotype analysis of the patient's family members revealed that her affected paternal aunt, as well as her asymptomatic father and 3 younger siblings, were heterozygous for the E383K substitution. The patient's mother did not have a NOD2 ...
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue Vrije Universiteit Brussel
PURPOSE: To assess the feasibility of identifying patients with (atypical) MUTYH-associated polyposis (MAP) by KRAS2 c.34G > T prescreening followed by MUTYH hotspot mutation analysis in formalin-fixed paraffin-embedded tissue (FFPE).
METHODS: We collected 210 colorectal FFPE tumors from 192 individuals who presented with <10 adenomas or familial mismatch repair proficient colorectal carcinomas with <10 concomitant adenomas. ...