Tezak: Challenges for NGS IVD devs: limited avail of clinical specimens! (her exclamation) Intended to get broader claims... #genomicfest
9:33am October 4th 2017 via Hootsuite
Tezak: SSED's for each are online. Praxis (ILMN) first for negative. Onto Liquid Biopsies: AACR-FDA https://t.co/HrKemohOjv #genomicfest
9:32am October 4th 2017 via Hootsuite
Tezak: Mentions first NGS CDx; FoundationFocus CDxBRCA Dec '16. Oncomine TMO June '17 with multiple markers/Rx; Praxis Ext KRAS #genomicfest
9:30am October 4th 2017 via Hootsuite
Tezak: When she joined 15y ago, CDx (companion Dx) was 'up and coming'. Listed chart of approvals https://t.co/TGp1zLOj3n #genomicfest
Zivana Tezak (Assoc Dir, Science and Technology, OIR CDRH FDA) The FDA, precision medicine and genomic tests #genomicfest
9:28am October 4th 2017 via Hootsuite
Great to meet @DNABARCODE in-person (CEO, @GExInc ) and colleague Tanya Kanigan at #genomicsfest https://t.co/qJITObvzEY
8:08pm October 3rd 2017 via Hootsuite
Strata Oncology, UCSF Launch Prostate Cancer Precision Medicine Initiative | GenomeWeb https://t.co/MBNrOXzA80
7:00pm October 3rd 2017 via Hootsuite
RT @eperlste: @Dereklowe Silly Derek, biology is just a data science problem https://t.co/71XbUBa0bO
6:50pm October 3rd 2017 via Hootsuite
Sweeney: '17 ref https://t.co/Qa8NYFCsEA Describes how the project registry operates #Genomicsfest
4:23pm October 3rd 2017 via Hootsuite
Sweeney: Hopkins, MDAnderson, MSKCC, Princess Margaret, Vanderbilt, Gustave Roussy, Netherlance Cancer Inst #Genomicsfest
3:36pm October 3rd 2017 via Hootsuite
Sweeney: 8 leading academic centers, collected historical and ongoing clinical sequencing efforts. Participants - Dana Farber #Genomicsfest
3:35pm October 3rd 2017 via Hootsuite
Shawn Sweeney (Project GENIE, AACR) 32K patients, int'l cancer registry w/real-world clinico-genomic data. #genomicsfest
3:34pm October 3rd 2017 via Hootsuite
Forum: Adv. precision medicine through linked real-world clinico-genomic datasets #Genomicsfest Moderator: Neal Meropol (Flatiron Health)
3:32pm October 3rd 2017 via Hootsuite
Rehm: 300 conflicting var's between Emory and GeneDx: 72% resolved. Why: 30% unpublished; 50% reassess https://t.co/gYwcPVhIX5 #Genomicsfest
3:26pm October 3rd 2017 via Hootsuite
Rehm: Even when rules given: not the same interpretation. ClinVar has 512K submissions, 60 countries, many sources #Genomicsfest
3:22pm October 3rd 2017 via Hootsuite
Rehm: Also put together a ClinGen Curator Interface (open to the public after registration) https://t.co/GHMaDRbD7b #Genomicsfest
3:20pm October 3rd 2017 via Hootsuite
Rehm: About 1300 genes at ClinGen https://t.co/teJwVhAF3D Improving how variants are named by ACMG https://t.co/WDcLtGhTqf #Genomicsfest
3:19pm October 3rd 2017 via Hootsuite
Rehm: 200-300 var/pt. 0-7 in MedSeq; 0-2 in BabySeq variants reported. Var's that look to be disrupting genes - may not be #Genomicsfest
3:14pm October 3rd 2017 via Hootsuite
Rehm: In 15y - vast majority the variants have only been observed 1x. 17% interpreted differently ref https://t.co/k6VyjoIsHw #Genomicsfest
3:13pm October 3rd 2017 via Hootsuite
Heidi Rehm (Partners, Harvard) ClinGen's efforts to enhance the reliabilty of variant databases through expert review #Genomicsfest
3:10pm October 3rd 2017 via Hootsuite
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
