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.
Complete “Sample-to-Result” Highly Automated NGS and qPCR Workflow for Clinical DiagnosticsPoster
Complete “Sample-to-Result” Highly Automated NGS and qPCR Workflow for Clinical Diagnostics.READ MORE
Severe Combined Immunodeficiency (SCID) caused by thymic aplasia due to a mutation in TBX1Poster
We report one of the first cases of TBX1 haploinsufficiency causing complete thymic aplasia and SCID.READ MORE
Assessing Microenvironment Immunogenicity Using Tumor Specimen Exomes: Co-detection of TcR-α/β V(D)J Recombinations Correlates with PD-1ExpressionPoster
This is the first report of any unproductive recombinations in tumor specimen exome files, indicating opportunities to identify lymphocytes in the microenvironment that could have impacts on tumor development other than via antigen presentation to T-cells. Based on α/β relative recombination rates, α recombinations are more frequent. The association of detection of alpha-beta V(D)J recombinations, with high PD-1 RNA levels and high RNA levels representing antigen presenting functions.READ MORE