Characterisation of complex structural variation in bacterial and human genomes
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Group Lead, Cancer Bioinformatics
Professor Lachlan Coin
Project Details
There is substantial genomic variation in the human genome, which remains extremely difficult to assay globally using existing genomic technologies. Many of these variants, such as repeat variation as well as recurrent copy number variation and recurrent inversions, mediated by non-allelic homologous recombination, are not well tagged by single-nucleotide variation, and hence their effects on phenotype remain largely unexplored. In-depth characterisation of this class of variation is beginning to uncover moderate effect size variants.
We are developing approaches which combine target sequence capture, followed by long-read sequencing using the Oxford Nanopore Technologies sequencers and real-time bioinformatics analysis of sequence data to genotype inversions and repeats.