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Genomics core

Genomics core labo 

Mission

The genomics core is a facility that advances the development and implementation of novel genomic technologies. The facility provides technological and intellectual support for scientific applications as well as next generation genetic diagnosis.

Events

News

An upgrade in sequencing chemistry, instrumentation and software of our 454 GS FLX+ System now generates read lengths up to 1kb (previous 500bp). These Sanger-like reads uncover more of your genome, transcriptome or metagenome of interest and enable novel applications.

The Illumina HiSeq2000 sequencing capacity combined with in-solution enrichment strategies enables cost-efficient resequencing of selected regions in the genome. The Genomics Core implemented the automated targeted workflow  on the Caliper Sciclone NGS Workstation for full exome sequencing (NimbleGen SeqCap EZ Human Exome Library V3.0) and custom resequencing (NimbleGen SeqCap EZ Choice) .

To anticipate the continuously growing throughput of future generation sequencers, the Genomics Core computing infrastructure has recently been drastically expanded with the addition of a 480 core, 2.18 TB RAM cluster.

The Genomics Core bioinformatics portfolio now covers the analysis of GS-FLX and HiSeq2000 sequencing data including DNA-seq (exome, genome, amplicon): de novo assembly, detection and annotation of variants, insertions, deletions, translocations, and copy number variations, mRNA-seq: gene expression and alternative splicing and this by applying multiple pipelines: GATK (Broad Institute), CASAVA (Illumina, Inc.),  Tuxedo Suite, GS Data Analysis software (Roche, Inc.) etc.

Kohlman, A., 'The interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories'. Leukemia, (2011), 1-9. (.pdf, 495 kB)

New E-brochure Pacific Biosciences (.pdf, 1122 kB)

Once a month Bio-Informatics meeting