Staff in the Genomic and Molecular Diagnostics Unit perform a wide range of genetic analyses, including very sophisticated and specialised requests, for diagnosis and research studies on rare diseases as well as for research on more common diseases.
Activities
• Sequencing single genes, panels of genes, and up to the whole exome with next-generation sequencing (NGS) techniques
• Sequencing and variant verification using the gold standard Sanger method
• Searching for complex genomic deletions, duplications and rearrangements using single molecule real-time sequencing and multiplex ligation-dependent probe amplification
• Transcriptome analysis and RNA-Seq with NGS
• Bioinformatics analysis of NGS results, annotation and variant selection, statistical analysis
• Genome-wide association studies
• ELISA assays in serum/plasma of complement system factors and their activation products
