Whole-Genome Analysis for the Diagnosis of Rare Inherited Diseases
Starting from April 2018, researchers of the Centrum of Human Genetics at the UZ Leuven began with the full-genome analysis of patients with rare diseases. By looking at the whole genome, researchers expect to discover the genetic causes that lead to disease such that patients with rare genetic conditions can receive a diagnosis. This project is supported by the Genomics Core Leuven, which provides the sequencing platform and the bioinformatics pipelines to analyze this large amount of data.
The full press release is available here (in Dutch only).
Bioinformatics Consulting Service
Are you finalizing your PhD and need support on your material and methods chapter regarding NGS analysis? Paper is complete but need NGS data uploaded to a public repository? Do you want to analyze your own NGS data on a computer cluster but do not know where to start? Our Bioinformatics Consultancy Service offers support in those and the following areas:
New workshop: Introduction to RNA-Seq Pipelines and Computational Analysis
The Genomics Core Leuven organizes on January 12, 2018 a mini workshop around RNA sequencing (RNA-Seq) whose aim is to introduce investigators, young researchers and doctoral students the rudiments of RNA-Seq technology that would allow to perform own analysis on the Flemish Super Computer (VSC).
When: January 12, 2018 (14:00-18:00)
Where: KU Leuven, Campus Gasthuisberg, building ON&1, auditorium Pentalfa, room 04.543.
Updated program and Registration –> Full.
Two brand new Illumina NovaSeq sequencers have been installed in our lab. Key applications for this machines are large WGS, exome sequencing, whole RNA-Seq and whole genome methylation sequencing. Four different flow cell types will be available, with ranging outputs from 1.600M up to 10.000M reads per run. The devices will be operational as from December 1st, 2017. If you have projects in mind to sequence using the NovaSeq devices, do not hesitate to contact us!
The Genomics Core Leuven is a knowledge and technology platform that facilitates access to different sequencing technologies and shares expertise in sequence analyses and data processing. It is a collaborative effort from KU Leuven and UZ Leuven for making state-of-the-art technologies, protocols and bioinformatic pipelines available for research and diagnostics. Large infrastructure grants and investment from the university hospitals led to the development of the largest sequencing facility in Belgium. The Genomics Core has multiple lllumina systems and also provides access to PacBio long read technology. Several liquid handling robots are used for automating the sample preparation workflows for different applications. In addition different single cell genomics fluidics pipelines are available: a liquid handling robotic pipeline based on single cell sorting, a custom droplet fluidics system and platform for rare cell isolation (dielectrophoretic cage array microfluidics system).
The Genomics Core Leuven partners within the Universitaire ziekenhuizen KU Leuven to enable the BELAC-accredited breast cancer (BRCA) genetic test as well as non-invasive prenatal testing (NIPT).
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