Is Oxford Nanopore Technology Ready for Clinical Diagnostics?
Poster Apr 26, 2017
GR Taylor, Kesia Brown, Andrew Bond & Michael Yau
Bridging the “valley of death” between scientific and technological innovation and clinical implementation is a cultural challenge for many organizations, including the NHS. Nanopore sequencing is a good example of a potentially disruptive genomics technology that looks likely to converge with mainstream clinical genomics in the near future. Since the technology is packaged in a range of products from the relatively small scale (Gigabase) O.N. Minion to the Terabase-scale Promethion, service developers have the opportunity to cross the valley of death using a “rope bridge” prior to investing in major infrastructure. Our objective is to validate diagnostic services using Oxford Nanopore’s Minion in the first instance and to evaluate the cost and performance compared to existing sequencing technology in areas such as tumour DNA sequencing (and circulating tumour DNA), virology, microbiology, genetics and HLA-typing. To facilitate this we are developing R&D collaborations and securing grant funding and commercial backing.
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Genome-wide association studies (GWAS) have identified more than 100 genetic loci associated with type 2 diabetes. The majority of these are located in the intergenic or intragenic regions suggesting that the implicated variants may alter chromatin conformation. This, in turn, is likely to influence the expression of nearby or more remotely located genes to alter beta cell function. At present, however, detailed molecular and functional analyses are still lacking for most of these variants. We recently analysed one of these loci and mapped five causal variants in an islet-specific enhancer cluster within the STARD10 gene locus. Here, we aimed to understand how these causal variants influence b-cell function by alteration of the chromatin structure of enhancer clusterREAD MORE
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We show that network analysis of co-localized ions from mass spectrometry imaging data provides a detailed chemo-spatial insight into the metabolic heterogeneity of tumor. Furthermore, module preservation analysis between colorectal cancer patients with and without metastatic recurrence suggests hypotheses on the nature of the different local metabolic pathways.READ MORE