Pseudomonas fluorescens strain SS101 (Pf.SS101) promotes growth of Arabidopsis thaliana, enhances greening and lateral root formation, and induces systemic resistance (ISR) against the bacterial pathogen Pseudomonas syringae pv. tomato (Pst). Here, targeted and untargeted approaches were adopted to identify …

Using Illumina HiSeq and PacBio technologies, we sequenced the genome of the multidrug-resistant bacterium Staphylococcus haemolyticus, originating from a bloodstream infection in a neonate. The sequence data can be used as an accurate reference sequence.

BACKGROUND: Overweight and obesity is a growing health problem worldwide. The most effective strategy to reduce weight is energy restriction (ER). ER has been shown to be beneficial in disease prevention and it reduces chronic inflammation. Recent studies suggest that reducing the protein quantity of …

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 …

Disorders of Sex Development (DSD)-patiënten zijn patiënten met een congenitale conditie waarbij de chromosomale, gonadale of de anatomische geslachtsontwikkeling atypisch is. Bepaalde groepen patiënten gediagnostiseerd met DSD hebben een verhoogd risico op het ontwikkelen van een kwaadaardige kiemceltumor …

The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of “Clinical Interpretation of Variants from Next-Generation Sequencing".

We present the first genome sequence for a strain of the main mycetoma causative agent, Madurella mycetomatis. This 36.7-Mb genome sequence will offer new insights into the pathogenesis of mycetoma, and it will contribute to the development of better therapies for this neglected tropical disease.

Numerous databases containing information about DNA, RNA, and protein variations are available. Gene‐specific variant databases (locus‐specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered …

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 …