NPSV is a Python-based tool for stand-alone genotyping of previously detected/reported deletion and insertion structural variants (SVs) in short-read whole genome sequencing (WGS) data. NPSV ...

Currently we operate four Illumina sequencing platforms: NextSeq500, HiSeq2500, MiSeq and MiniSeq. In addition, we provide access to the newest sequencing platforms through our collaborators: Oxford ...

A world-first study using data on the 100,000 Genomes Project, and published in the New England Journal of Medicine, has demonstrated for the first time that whole genome sequencing (WGS) can uncover ...

In a recent article published in the journal Scientific Reports, researchers from the Netherlands developed and evaluated an automated protocol for the Illumina library preparation kit using a ...