Publicaties
From genotype to phenotype in Arabidopsis thaliana: in-silico genome interpretation predicts 288 phenotypes from sequencing data KU Leuven
ResFinder 4.0 for predictions of phenotypes from genotypes Instituut voor Tropische Geneeskunde Universiteit Antwerpen
Objectives: WGS-based antimicrobial susceptibility testing (AST) is as reliable as phenotypic AST for several antimicrobial/bacterial species combinations. However, routine use of WGS-based AST is hindered by the need for bioinformatics skills and knowledge of antimicrobial resistance (AMR) determinants to operate the vast majority of tools developed to date. By leveraging on ResFinder and PointFinder, two freely accessible tools that can ...
Short Communication Phenotypic Protease Inhibitor Resistance and Cross-Resistance in the Clinic from 2006 to 2008 and Mutational Prevalences in HIV from Patients with Discordant Tipranavir and Darunavir Susceptibility Phenotypes KU Leuven
Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes Universiteit Gent Universiteit Antwerpen
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly Universiteit Antwerpen KU Leuven Vrije Universiteit Brussel Universiteit Gent
Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis Vrije Universiteit Brussel
Background & Aims: Biallelic mutations in the base excision DNA repair gene MUTYH lead to MUTYH-associated polyposis (MAP) and predisposition to colorectal cancer (CRC). Functional studies have demonstrated significant differences in base recognition and glycosylase activity between various MUTYH mutations, notably for the 2 mutations most frequently reported in MAP patients: Y179C and G396D (previously annotated as Y165C and G382D). Our ...