Illumina SNP facilityThis SNP genotyping facility is located in the Complex Genetics section and is part of the Genomics Centre, UMC Utrecht. It facilitates the use of SNP genotyping technology to research projects in the Academic Biomedical Centre (ABC), Utrecht University, but is also available to other research projects in the Netherlands.
Next-generation sequencing
Next-generation sequencing offers rapid ways for the genome-wide detection of single nucleotide polymorphisms and structural variation, mRNA profiling, and identification of transcription factor binding sites. It is also being applied in medical genomics to resequence loci that are associated with disease and it will probably be implemented in diagnostics for the quick and thorough genotyping of patients’ DNA.
We are currently setting up an infrastructure for massive parallel sequencing using Applied Biosystems SOLiD system (sequencing by oligo ligation detection). The SOLiD sequencer uses a unique protocol for sequencing by ligation (see Figure 1). In this process, single DNA molecules are clonally amplified on beads, which are deposited on a glass slide. The sequence of the DNA on the beads is determined by ligation of fluorescently labelled octameric DNA probes using the clonal DNA on the beads as a template. The di-base encoding strategy makes the SOLiD system unique among the current next-generation sequencing platforms and is fundamental to its unmatched accuracy. ...
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Personal GenomicsGIDS database
GIDS is a custom-designed Genomic Information Database System (see menu on left).
Genome Diagnostics Section, Department of Medical Genetics, Wilhelmina Children's Hospital, UMC Utrecht
The Genome Diagnostics Section comprises the Laboratories for DNA diagnostics and Clinical Cytogenetics. It provides both prenatal and postnatal genetic diagnosis using a large variety of state-of-the-art techniques ranging from karyotyping, fluorescent in situ hybridisation, CGH-array to sequencing.
Dept. of Medical Genetics, Wilhelmina Children's Hospital, UMC Utrecht (in Dutch)
Bioinformatics Group, Dept. of Biomedical Genetics, UMC Utrecht
The bioinformatics group is part of the Genomics Centre. Its goals are to perform research in the bioinformatics field and provide support to ongoing research projects. The group mainly focusses on microarrays and functional genomics data.