Brayer: Even smaller: SmidgION - where it's an 'entry-level mobile sequencing system', supporting all chemistries, late '17 #Genomicsfest
2:55pm October 3rd 2017 via Hootsuite
Brayer: GridION x5 is demo'd here; compute is built-in; working on a Flongle, where the MinION has a removable flowcell #Genomicsfest
2:54pm October 3rd 2017 via Hootsuite
Brayer: Also working on FPGA data accelerator, to do a base-calling on a stick. 200 GFLOP acceleration to a laptop, 5W, tiny #Genomicsfest
2:52pm October 3rd 2017 via Hootsuite
Brayer: Zumbador - the proboscis of a hummingbird - just add sample, automated nucleic acid extraction. #Genomicsfest
2:51pm October 3rd 2017 via Hootsuite
Brayer: Has been directly sequencing RNA (in beta) without reverse transcription #Genomicsfest
Brayer: ONT has spun out Metrichor, dev a WIMP (Whats In My Pot) algorithm, to map to complex ref sequence in realtime #Genomicsfest
2:50pm October 3rd 2017 via Hootsuite
Brayer: Holds up Voltrax device for automated library prep. #genomicsfest https://t.co/J3pZsuXi0b
2:49pm October 3rd 2017 via Hootsuite
Brayer: After library prep, apply to flowcell, and sequence. Want to develop a portable platform. Library prep: Voltrax #Genomicsfest
2:47pm October 3rd 2017 via Hootsuite
Brayer: 2048 sensor wells, but only 512 channels in the ASIC connected to sensor wells. 4 wells per sensor. Maintaining outpt #Genomicsfest
2:45pm October 3rd 2017 via Hootsuite
Brayer: Reviews the platform; biological pore. A measuring device for current. A fluid environment, collected in real-time #Genomicsfest
2:42pm October 3rd 2017 via Hootsuite
Brayer: Starts with an example from Justin O'Grady '16 ref https://t.co/wZ1X8y445E MinION on the ISS; shows how small it is #Genomicsfest
2:38pm October 3rd 2017 via Hootsuite
Brayer: And what about portability? 'Enable questions to be asked that weren't asked before of NGS'. #Genomicsfest
2:34pm October 3rd 2017 via Hootsuite
Brayer: Think differently - what about reads long and/or short? Analysis in real-time, with simple workflows? #Genomicsfest
2:33pm October 3rd 2017 via Hootsuite
Brayer: 'Ways to challenge yourself in how you look at sequencing' . In '03, hg10; N50 was 0.5MB #Genomicsfest
2:31pm October 3rd 2017 via Hootsuite
James Brayer (Oxford Nanopore) Real-time DNA sequencing using Oxford Nanopore Technologies 'Nanopore Sensing Platform' #Genomicsfest
2:30pm October 3rd 2017 via Hootsuite
John: Often to be told 'why it won't work'. "How do we make this happen?" A culture of making it happen, driving creativity #Genomicsfest
2:05pm October 3rd 2017 via Hootsuite
Sarwar: What's it like working in Pharma? Culture? John: Staying in biopharma: multidisciplinary project team organization #Genomicsfest
2:03pm October 3rd 2017 via Hootsuite
Plump: Rare disease 'is standard practice'. Our understanding is driving clinical trial practice. n of one treatments? #Genomicsfest
2:02pm October 3rd 2017 via Hootsuite
Plump: For Altzheimers - looking from normal to conversion Altz. Oncology promising: personally recommends full WGS #Genomicsfest
2:01pm October 3rd 2017 via Hootsuite
Plump: Common disease: genetics has not been that helpful for enrich for population for common disease. #Genomicsfest
1:59pm October 3rd 2017 via Hootsuite
Sarwar: Now exploring whether there are biomarkers of therapeutic usefulness, for PhII and PhIII trials. 'It's happening' #Genomicsfest
1:51pm October 3rd 2017 via Hootsuite
Sarwar: E6742, PhI small molecule for a lupus target derived from genetics. AiM Inst: re-prioritized due to genetic evidence #Genomicsfest
Plump: An example with human genetics, functional assays derived from genetics, to control (and perhaps cure). #Genomicsfest
1:48pm October 3rd 2017 via Hootsuite
Plump: Gives an example of ALS, one genetic form is TDP43 aggregation. Taking iPCSCs, with both forms able to run drug screens #Genomicsfest
1:47pm October 3rd 2017 via Hootsuite
What a fun break at #genomicsfest with @antonioregalado and @rustyshacklferd - what fascinating topics! https://t.co/YXC0Yh8u6v
1:44pm October 3rd 2017 via Hootsuite
Plenge: Another for mild IL-2 deficiency; used for Phase 1b, for selection to guide indications #Genomicsfest
1:42pm October 3rd 2017 via Hootsuite
Plenge: About 1/2 their pipeline are due to genetic targets. One for lupus - using a molecule and mechanism (Thalidomide-like) #Genomicsfest
1:41pm October 3rd 2017 via Hootsuite
John: For Trem2 and PSKC9, a lot of effort made due to genetic targeting. #genomicsfest
1:40pm October 3rd 2017 via Hootsuite
Q: Cost savings? John: Concrete example given of stopping an effort at Biogen earlier than before without genetics #Genomicsfest
1:39pm October 3rd 2017 via Hootsuite
Plump: One trial for BeatAML has >$100M cost for this cancer clinical trial, but with the organization BeatAML it's 1/25th #Genomicsfest
1:34pm October 3rd 2017 via Hootsuite
Plump: Oncology great advances in enrollment, great examples of umbrella and basket trials to help control costs #Genomicsfest
1:30pm October 3rd 2017 via Hootsuite
Plump: As CMO/CSO, help drive reimb; help manage 'outrageous, absurd costs of clinical trials'; how to leverage capabilities #Genomicsfest
1:28pm October 3rd 2017 via Hootsuite
Plenge: With a genetic target - PSKC9 a poster child, but it is excreted, had choices. Other targets not so 'conventional' #Genomicsfest
1:26pm October 3rd 2017 via Hootsuite
Q: Is it gaps in science, or a cultural problem? Plenge: Modalities that we knew what to do with (small molecules or Abs) #Genomicsfest
Plenge: Also reduce cycle-time bet. an idea, and testing in humans. Today: longer as the many more things to consider, complex #Genomicsfest
1:24pm October 3rd 2017 via Hootsuite
John: Success rates have already shown to be higher - on the order of 20% compared to about 10% without genetic guidance #Genomicsfest
1:23pm October 3rd 2017 via Hootsuite
Sally John (Biogen) Robert Plenge (Celgene) Andy Plump (Takeda) moderator Madeem Sarwar (Eisai AiM) #genomicsfest
1:22pm October 3rd 2017 via Hootsuite
@rplenge and panel at #genomicsfest - “a Dream Team” https://t.co/zEmHBhLtro
1:20pm October 3rd 2017 via Hootsuite
Panel: Human genetics guided drug development: from insight to impact #Genomicsfest
1:19pm October 3rd 2017 via Hootsuite
Q: What % for cancer is self-pay, inst.-absorbed? How changed? Daber: very few (<1%) self-paid. Inh cancer DTC self-paid #Genomicsfest
11:54am October 3rd 2017 via Hootsuite
Lennerz: Even if 100% out of pocket - still no one knows! #Genomicsfest
11:52am October 3rd 2017 via Hootsuite
Lennerz: Out-of-pocket costs difficult to determine. Example: child with need for rare genetic testing. No one knows price #Genomicsfest
Daber: One problem:consistency in interpretation. Also organizing operations - billing, payments, all done by humans now #Genomicsfest
11:50am October 3rd 2017 via Hootsuite
Q: Informatics challenges for development? Ramamurthy: Processes that evaluate effectiveness, to do that faster #Genomicsfest
11:49am October 3rd 2017 via Hootsuite
Q: How many policies? Dodek: Mass Blue Cross had over 500 plans; managing over-use and expense #Genomicsfest
11:47am October 3rd 2017 via Hootsuite
Dodek: Wants to be current w/network physicians as well; labor-intensive process #Genomicsfest
11:46am October 3rd 2017 via Hootsuite
Q: Imtc of evidence - what matters in coverage? Dodek: Looks for peer-review, solid rigor, no one health plan has expertise #Genomicsfest
11:45am October 3rd 2017 via Hootsuite
Daber: We are working with existing systems that are just not setup to handle this kind of data; thus a big problem to solve #Genomicsfest
11:40am October 3rd 2017 via Hootsuite
Daber: A aancy-looking report as a PDF in an EHR: not accessible. How can a platform organize it, evaluate usefulness? #Genomicsfest
11:38am October 3rd 2017 via Hootsuite
Ramamurthy: $FMI has sequenced hundreds of thousands of patients. Enables potential clinical trial enrollment #Genomicsfest
11:37am October 3rd 2017 via Hootsuite
