Delivery of Genome Mapping Equipment

The Department of Genetics and Department of Haemothology wish to purchase an instrument for Genome Mapping with the following specifications: • The device must have the ability to generate a physical genome map of very long DNA molecules (>100 kb) from single molecules without genome amplification, starting from <1 µg DNA. The N50 molecule must be >200 kbp. • The system must have ability to provide structural variation analysis in mosaic complex genomes, including at least the following categories of variants with quoted minimum sizes at >90% sensitivity: deletions (5 kb), insertions (5 kb), balanced and unbalanced inversions (70 kb), translocations (70 kb), and duplications (150 kb). Copy number variants (from 500 kb to aneuploidies). • The device/software must provide a complete analysis and workflow to detect repeat expansions disorders, such as facioscapulohumeral muscular dystrophy (FSHD) and a graphical user interface tool for visualization and curation. • The system must have ability to perform pipeline analysis operations without limitations in server capacity or network response times. Data must be encrypted for secure operations and genomic data must be accessible only to end users and deleted post-processing. • Dimensions and weight of instrument must be of bench-top size. The instrument must be able to operate within standard laboratory environmental conditions.