New NGS course: Genomic resequencing & variant calling

08 Mar 2012

On April 4-5, a new BioWise LS course on ‘Genomic resequencing: variant detection and interpretation in a diagnostic context’ will be organised in Nijmegen by NBIC and the Centre for Genome Diagnostics (CGD). Patrick Koks, who joined the BioWise team earlier this year, explains why the time is right to put the spotlight on this particular topic. "It belongs to the broader area of Next Generating Sequencing, NGS. The latter has been the subject of a number of courses already. Participants in these courses are now ready to dive deeper into more specific topics within NGS. For 2012 we aim at a total of four advanced courses on specific NGS applications like RNAseq, metagenomics, de novo assembly and first on the list: exome sequencing in the upcoming course on genomic resequencing and variant calling", says Koks.

Into the clinic
Also the fact that exome sequencing is gaining ground in the clinical setting fuels the need for a targeted course. "The technique has rapidly become accessible over the past few years. It is now possible to sequence a patient's exome and although it is not routine practice yet, it is definitely moving in that direction." The course programme offers lectures to get the participants up to speed on basic aspects, latest developments and current methods. Next to the theory, the participants will be put to work to get hands-on experience with data analysis and will be offered demos on the commercially available tools and systems. "With the demos we aim to support the participants in choosing the packages that best serve their particular needs." The course exclusively deals with the clinical application of exome sequencing and target groups include researchers and technicians involved in sample preparation, sequencing, data collection, annotation etc. as well as clinical geneticists involved in data interpretation and communicating the results to physicians and patients.

Focus on users
'Genomic resequencing: variant detection and interpretation in a diagnostic context' is part of BioWise LS, the NBIC education programme geared towards life scientists – the 'users' of bioinformatics. Within the BioWise team, Patrick Koks will primarily focus on this target group. "We aim to offer an extensive and diverse course programme for biologists and other life scientists. To this end, we will expand the current course programme, but we will also further develop e-learning methods for this group. For over a year now, I have been working on the eBiomics project (www.ebiomics.org), a European project on e-learning in bioinformatics and this will stay part of my work within BioWise."

More information about the course (programme).

The course is planned to be organised again in the 2nd half of 2012.

By: Esther Thole