Powell: Also Dimer removal for NGS, and a Colon test. XNA is a neutral backbone, salt-neutral; if there's a mutant, product will amp #Tricon
11:09am February 21st 2017 via Hootsuite
Powell: XNA is a blocking oligo; they have tech for qPCR, for NGS called OptiSeq, apply it for CRISPR editing event-screening #Tricon
11:08am February 21st 2017 via Hootsuite
Michael Powell (Diacarta CA) Next-generation precision molecular diagnostics powered by XNA #Tricon
11:07am February 21st 2017 via Hootsuite
Volker: He's also a cautionary tale of how sequencing needs to be done as quickly as possible. Ultimate goal - baby sequencing #tricon
8:48pm February 20th 2017 via Hootsuite
Volker: The goal of the foundation is to make it more available around the world. Worthey: Many organizations raising funds #Tricon
8:47pm February 20th 2017 via Hootsuite
Worthey: Things have moved fast, but still a shocker that it still isn't more common. The evidence is all there. #Tricon
8:46pm February 20th 2017 via Hootsuite
Volker: Cured of two diseases, but PTSD, Tuorette's, potential autism today. If he presented now, he could be sequenced right away #Tricon
Volkers: It was 'Munchausen syndrome by proxy' - (I had to look it up https://t.co/31He8xgOsA ) Nic is a $7M kid now. #Tricon
8:45pm February 20th 2017 via Hootsuite
Volker: Before the sequencing, they already reached their $2M maximum. Was under investigation for abuse (!) #Tricon
8:43pm February 20th 2017 via Hootsuite
Gallagher: Shares stories about struggles of the family; older daughters getting groceries; getting to know this family as people #Tricon
To get a sense of what this little Nic Volker went through, this photo at a #tricon panel https://t.co/w0o3nifvyZ
8:42pm February 20th 2017 via Hootsuite
Gallagher: "You have a story but without the family it's not much of a story". Their foundation: https://t.co/sgsJ4PxZtn #Tricon
8:38pm February 20th 2017 via Hootsuite
Worthey: Didn't get to the bottom of a list in a meeting; disbelief that they had found it. #Tricon
8:35pm February 20th 2017 via Hootsuite
Worthey: Asked at a CSHL meeting, and asked y/n questions via emails; none had found the same variant, neither any organism #Tricon
8:33pm February 20th 2017 via Hootsuite
Worthey: Had 12K variants, and 'ignore any variant above a frequency' but then there were no variant db's #Tricon
Gallagher: When we finally met Amylynn, we met a boy running around. Wanted to get the news out. #Tricon
8:30pm February 20th 2017 via Hootsuite
Gallagher: While speaking with a person, mentioned 'they sequenced all the genes of a patient', and thought there was a story here #Tricon
8:27pm February 20th 2017 via Hootsuite
Gallagher: Thought he was the youngest person to get Crohn's, failed all treatments. #Tricon
8:26pm February 20th 2017 via Hootsuite
Worthey: We couldn't use his name, so used 'sick kid' instead. Worked with 454, managed to get exome sequencing (this was '08) #Tricon
8:25pm February 20th 2017 via Hootsuite
Gallagher: There were detractors, who said that you would set the field back. #Tricon
8:23pm February 20th 2017 via Hootsuite
Worthey: Howard Jacob, found out about a boy who was about to die. So we said 'of course, we'll do whatever it takes to go faster' #Tricon
8:22pm February 20th 2017 via Hootsuite
Liz Worthey (HudsonAlpha AL) Could try to help kids in trouble - moved to WI to build up a team for genomic medicine #Tricon
8:21pm February 20th 2017 via Hootsuite
And now? Volker: He's normal, and hit a milestone - 'he hit puberty' #Tricon
8:20pm February 20th 2017 via Hootsuite
Co-author: Kathleen Gallagher 'he instead of sleeping with a teddy bear, would sleep with bagel bites that he couldn't eat' #tricon
8:19pm February 20th 2017 via Hootsuite
Volker: Many non-std treatments, wounds 'ripped open', couldn't eat, had IV-nutrition. #Tricon
8:18pm February 20th 2017 via Hootsuite
Volker: Slides show lots of pre- and post-photos. Colectomy to try and save his life; white cell transfusions, immune ablation #Tricon
8:17pm February 20th 2017 via Hootsuite
Volker: His daily routine was to go to the hospital every day to clean his wounds. I 100 trips to the OR. Did hyperbaric trtmt #Tricon
8:16pm February 20th 2017 via Hootsuite
#Tricon keynote title "One in a Billion: the stoyr of Nic Volker and the dawn of genomic medicine" Amylynne Santiago Volker
8:15pm February 20th 2017 via Hootsuite
Panel #Tricon - Nic Volker's mother Amy Lyn https://t.co/5rhG9U8q0v Journalist here and book author. Also Liz Worthey
8:14pm February 20th 2017 via Hootsuite
Q:TAT for extraction of DNA/RNA? Conroy: 4-5d from specimen receipt, as they wait to batch. #Tricon
7:39pm February 20th 2017 via Hootsuite
Conroy: Mentions it took a lot of work to inform NY State with all the changes and data #Tricon
7:38pm February 20th 2017 via Hootsuite
Conroy: PyroMark, ABi 3500XL, SNVs and indels Ion PGM, Ion S5XL, Fusions, gene expresion MiSeq, CNV nCounter #Tricon
7:33pm February 20th 2017 via Hootsuite
Conroy: Able to extract 1x, go to RNA, and re-extract sample for DNA; shows nice yields of both. Validated across platforms #Tricon
7:32pm February 20th 2017 via Hootsuite
Conroy: Went from 12% QNS (quality not sufficient) to 4%. Now onto RNA extraction: showed table of yield differences, similar #Tricon
7:31pm February 20th 2017 via Hootsuite
Conroy: Showed panel of bioanalyzer traces of matched samples. NGS for mutations, Nanostring for CN analysis, 4/6 fail vs 6/6 pass #Tricon
7:29pm February 20th 2017 via Hootsuite
Conroy: Showed data side-by-side from matched cores, ave yield 1.5ug vs 4.6ug by Qubit cp Covaris vs 'Q' #Tricon
7:28pm February 20th 2017 via Hootsuite
Conroy: Shows acoustic lysis of the material. Regardless of mass, within 60 min ready to go into automated workflow (Covaris) #Tricon
7:26pm February 20th 2017 via Hootsuite
Conroy: How to extract? (organic, column, beads...) Manual or automated? How to deparaffinize? How and how long to lyse? #Tricon
7:23pm February 20th 2017 via Hootsuite
Conroy: Uses LabVantage LIMS to specimen data. For extractions - how many alternative? Liquid handling options? #Tricon
7:22pm February 20th 2017 via Hootsuite
Conroy: Use a tissue pick to scrape off material from 3-6 unstained slides. Also scrapers. Can multiply tubes. #Tricon
7:20pm February 20th 2017 via Hootsuite
Conroy: Needle core thru block to get high neoplastic nuclei and low stroma; then low neoplastic nuclei, high stroma but microenv #Tricon
7:19pm February 20th 2017 via Hootsuite
Conroy: Need DNA, RNA, max yield, HMW as possible, pure, low interferents, meet variety of downstream applications #Tricon
7:16pm February 20th 2017 via Hootsuite
Conroy: FFPE is crosslinked, can't control for age, storage, tumor mass, thickness, heterogeneity, histologies #Tricon
7:15pm February 20th 2017 via Hootsuite
Conroy: Challenge - going from specimen to complete reports. From needle cores, 20-40 blocks at any one time to a plate #Tricon
7:14pm February 20th 2017 via Hootsuite
Jeff Conroy (OmniSeq NY) Total nucleic acid profiling of FFPE tumors #Tricon
7:12pm February 20th 2017 via Hootsuite
Bly A2: A probiotic 'is like a drop in the ocean'. Single pills likely are not working. Need 20-30 pills to be effective for FMT #Tricon
7:08pm February 20th 2017 via Hootsuite
Q: When will you write a book? Bry: May be updating this '77 book https://t.co/Yv5tRYPC0r #Tricon
7:07pm February 20th 2017 via Hootsuite
Q; What is a 'normal FMT donor?' Bry: FMT is not going away. More defined consortia w/what pts actually need #Tricon
7:06pm February 20th 2017 via Hootsuite
Bry: Cancer: direct and idnirect; checkpoint inh is dependant on a primed immune system. Concludes - bugs as drugs #Tricon
7:05pm February 20th 2017 via Hootsuite
Bry: Even immune modulation by microbiota, including PD1 response. #Tricon
7:04pm February 20th 2017 via Hootsuite
