Oxford Nanopore Technologies is focusing on developing a tuberculosis test as its first in-house diagnostic. At the Nanopore Conference, various experts discussed the use of Nanopore technology in clinical genetics, rapid tumor diagnostics, and enhancing drug selection. The conference highlighted the potential of Nanopore sequencing to revolutionize medical diagnostics and treatment processes.
Some overall thoughts from #nanoporeconf TL;DR the fundamentals of nanopore of long reads; fast time to result; native DNA/RNA with modification sequencing has not changed. Error rates *have* improved significantly; Less breakneck speed innovation, more stability on the horizon
The potential to capture nearly all disease-causing variants faster than traditional methods, reducing time to answer, & addressing past concerns about cost and complexity .@danrdanny shared how long nanopore reads have the potential to transform the future clinical landscape. https://t.co/uP4WqAFg9p
Seanne P. Buckwalter shared how she's looking for a rapid & less labour intensive method to characterise TB. At #nanoporeconf she shared how nanopore technology has the potential to plug that gap by providing an simple, accurate method to identify TB & resistance markers. https://t.co/iyoQ9lHJn1
Prof. Dr. Pieter Wesseling gave the first talk of the day. Using rapid nanopore sequencing he showcased his ultra-rapid molecular classification method for brain tumours during surgery & discussed its potential to impact neurosurgical decisions and patient outcomes. #nanoporeconf https://t.co/hNsAqgTwPb
Dr. Telmo Graça shared how #nanopore sequencing offers real-time, label-free monitoring for comprehensive quality control in mRNA manufacturing, and how it is setting a new standard by enabling direct mRNA sequencing for precise identity, integrity, and composition analysis. https://t.co/H7eXh0C9ib
We are excited to collaborate with @nanopore to develop a workflow to provide unambiguous genetic results in a single assay - alleviating the need for time-consuming & costly tests! @twistbioscience, #NGS, #nanoporeconf, #nanopore https://t.co/NYJF1uSB0W
Rapid genome sequencing (rGS) is transforming neonatal care but faces limitations in availability, speed, & variant detection. At #nanoporeconf, Stephen Meyn & BadgerSeq shared how #nanopore sequencing has the potential to enhance rGS by delivering results rapidly. https://t.co/ihLHbqVEWy
On the showcase stage Carolyn Tregidgo is taking us through how we are developing products to accelerate clinical and biopharma applications with nanopore sequencing. #nanoporeconf https://t.co/ESgUkjR3Sc
Hannah Titheradge discussed her NanoporE Enhances Diagnosis in rarE Disease (NEEDED) study which aims to genetic diagnosis in monogenic developmental disorders. She shared the future potential of long nanopore reads to help resolve undiagnosed individuals in the future. https://t.co/IW0hPzRMMG
Editorial - great work from Team Nottingham, spanning genomics, technology/bioinformatics, neuropathology and surgery. I hope this can get fast tracked through regulation/acreditation etc. #nanoporeconf
Register – Towards CNS Rapid Diagnostics - Information Day – Medical School, Queens Medical Centre Workshop on rapid adaptive Nanopore sequencing during brain surgery #nanoporeconf https://t.co/oxhsG1Vrej
SP: ultra-fast prep, good software, adaptive sampling to give a comprehensive panel but can also dynamic adaptively add in fusion target. #nanoporeconf
SP: at the moment the proof of principle data happens in parallel to standard of care, but it is frustrating that the clinicans are now confident within 24 hours for the cancer course. (need to move to medical product/pipeline) #nanoporeconf
SP: thought intra-operative would only be for complex cases such as pediatric. But surgeons want to expand. Gives an example that within 5 mins of sequencing told that the ependymoma. Standard of Care needed two surgical procedures #nanoporeconf
SP: Ultrafast pipeline. 0-2hours from sample to intra-operative classification - leave on the machine (P2) overnight for the full genome. Done on a large number of cases - high concordance with standard of care. The discordant cases are explainable #nanoporeconf
Simon Paine from Nottingham next up- intra-operative diagnosis. Simon starts with neuropathology and MRI/microscopes are only part of the view of tumour - molecular information is very useful, but 28 days in practice for methylations. #nanoporeconf
Great to see Dr Simon Paine preenting on rapid CNS tumour diagnostics at #nanoporeconf - we are hosting a whole day on this in Nottingham on 27th June - the meeting is free, but does require registration. https://t.co/E61zAuXLyT
Now Henlee on circulating tumour DNA. ONT removes any concern about length (can see more than nuceloesomes) and methylation comes for free. Methylation based classifier can show metastasis onset (where as "just" conc cf DNA did not) #nanoporeconf
Packed upstairs ("Blondie room" - rooms names after 1970s rock stars) on oncology. Good presentation from BC Cancer Genome centre on ONT for methylation for primary of unknown origin and methylation of HRD signatures due to methylation shut down of BRCA1 etc #nanoporeconf
Léa Payen showed how her targeted nanopore pharmacogenomic panel could enhance individualised drug selection & dosing. She also discussed achieving comprehensive genetic variation detection and resolving ambiguous haplotypes - outperforming traditional short-read methods. https://t.co/XoaDzUQV28
TG: Will develop a cGMP validated test for multiple CQAs for mRNA products. This will be validated direct RNA sequencing on Q-line nanopore sequencers, with sample to answer. Currently products for research use only; next year Telmo hopes to have it in use #nanoporeconf
It's clinical and biopharma day at #nanoporeconf and seeing Danny Miller give a tour de force on how to use @nanopore for clinical genetics - cases solved by structural variation, phasing de novo variants (eg, around imprinted genes) and also "plain old" VNTRs
Danny Miller - clinical testing a complex game of chutes and ladders as series of tests + consults ; severe inconvenience (lost work, travel, spot childcare) and cost deters patients Long read sequencing can provide a single test #nanoporeconf https://t.co/2Tr34NjWXA
🦠 #Tuberculosis is on the rise! The future of #TB diagnostics is @nanopore amplicon sequencing. From 2 months culture and phenotypic drug susceptibility testing —> to 8 hours by #Ampore_TB #MDR #AMR #nanoporeconf #freezeTB (Dr S Buckwalter MayoClinic) https://t.co/Rbyl4Ka507
.@doctorpreneur kicks off our first ever clinical and biopharma day at this #nanoporeconf? https://t.co/DS622PQz5z
Ultra-fast deep-learned CNS tumour classification during surgery | Nature Introduced Sturgeon deep learning classifier trained on Illumina methylation array data, Claire tumors based on ONT calls #nanoporeconf https://t.co/9SOcxwSjyl
Oxford Nanopore Technologies Eyes TB Test as First In-House-Developed Diagnostic Test https://t.co/yYlxif68yF