Ashley: Charts of bases not covered from the ACMG 56 gene set. But what about repeat regions? Segmental dupl, gene families. #AGBT16
12:27pm February 12th 2016 via Hootsuite
Ashley: 30X WGS is more even - but % of coverage, uses fig from this '14 JAMA https://t.co/xIwWgKWs8W #AGBT16
12:26pm February 12th 2016 via Hootsuite
Ashley: Ex: Long QT syndrome, KCNH2; no coverage at all in one exone - has 19 pathogenic/likely in ClinVar (!) #AGBT16
12:24pm February 12th 2016 via Hootsuite
Ashley: How much is high-confidence? Working with Genome in a Bottle (https://t.co/ONUKX6gOrO upcoming publication #AGBT16
12:23pm February 12th 2016 via Hootsuite
Ashley: So what is the ideal genome diagnostic today? Challenges to clinical grade quality w/curr approaches. PREACH IT #AGBT16
Ashley: But one slide as a take-home: 'Precision medicine needs to be >accurate< medicine' #AGBT16
12:22pm February 12th 2016 via Hootsuite
Ashley: Great slides of the current landscape: genetic disease, ccfDNA, infectious, PGx, cancer, complex disease #AGBT16
Ashley: Precision oncology, HLA, neoantigens, germline risk, T-cell repertoire. #AGBT16
12:21pm February 12th 2016 via Hootsuite
Ashley: Chart of 6 subcategories, with particular variant, and specific drugs to treat. #AGBT16
12:20pm February 12th 2016 via Hootsuite
Ashley: Shows GOOG trends for personalized and precision medicine and its trend. Illus with CF at the molecular level #AGBT16
Ashley: He 'gets up in the AM and thinks about ISIS, the economy, and the Personalized Medicine Initiative" #AGBT16
12:19pm February 12th 2016 via Hootsuite
Ashley: In '15, the announcement at SOTU announcing #PMINetwork "the right treatment at the right time". Not unusual - '06 S.3822 #AGBT16
12:18pm February 12th 2016 via Hootsuite
Reminder announcement: these are RUO instruments; first up:Euan Ashley (Stanford) "Towards Precision Medicine" #AGBT16
12:16pm February 12th 2016 via Hootsuite
Their vision - making sequencing 'accessible for routine clinical practice'. PREACH IT #AGBT16
12:14pm February 12th 2016 via Hootsuite
Roche #AGBT16 Workshop "Revealing the Unknowns in Medical Research with Long-Read SMRT Sequencing"
12:13pm February 12th 2016 via Hootsuite
Piazza: Tn-based access; various number of cells; used ERCC controls for their RNA validation. (Available from TMO) #AGABT16
11:40am February 12th 2016 via Hootsuite
Piazza: Showed size graph of different ATAC conditions #AGBT16 '15 Greenleaf's method https://t.co/8U7cs6OMNy (couldn't make it today)
11:37am February 12th 2016 via Hootsuite
Piazza: Mentions this '15 Nature Biotech https://t.co/mENZCHEB5x single-cell that combine techniques #AGBT16
11:33am February 12th 2016 via Hootsuite
Paolo Piazza (U Oxford) Linking epigenetics and gene expression at single cell levels using SMART-ATAC-seq #AGBT16
11:29am February 12th 2016 via Hootsuite
Wojcicki:Q:Diff in demographics of their data? A:Believes that mobile offers potential. #AGBT16
10:08am February 12th 2016 via Hootsuite
RT @davidscj: Wojcicki:5 forms of data mining 1) GWAS; 2) est of penetrance; 3) rare genotypes 4) Finding modifiers; 5) therapeutics #AGBT16
10:05am February 12th 2016 via Hootsuite
.@davidscj Nice - her talk reduced to 140 chars. Thanks!
10:04am February 12th 2016 via Hootsuite in reply to davidscj
Overheard: customers saying the @nanopore PromethION launch is facing delays. #AGBT16
10:02am February 12th 2016 via Hootsuite
New Post: Advances in Genome Technology #AGBT16 - Next Generation Technologist https://t.co/VLGk0caIWq
9:59am February 12th 2016 via Hootsuite
RT @GenomeBiology: AW talks on the @23andMe study on THAT famous dress. Read here https://t.co/HQ9xdgZ2iC #AGBT16
9:56am February 12th 2016 via Hootsuite
RT @shgoodwin1: AW: Discussing "The Dress". But its a bit frightening that 23andMe knows if I open their spam mail or not #AGBT16
Wojcicki: "Research subjects are partners", HIV activism as an example. Getting info back to them, people willing to contribute #AGBT16
9:40am February 12th 2016 via Hootsuite
Wojcicki: Quotes this 1961 JAMA https://t.co/wRFKRTMxFS on how few doctors are willing to tell their pts they have cancer #AGBT16
9:39am February 12th 2016 via Hootsuite
Anne Wojcicki (23andMe) Making discoveries on the 23andMe platform #AGBT16
9:37am February 12th 2016 via Hootsuite
Flatley:Q:Firefly and epigentics? A:Already have technologies, so far no breakthroughs in that area yet #AGBT16
9:35am February 12th 2016 via Hootsuite
RT @GenomeNathan: Q: How long will Firefly (CMOS) reads be? Flatley: At launch, 150b (end-paired). #AGBT16
9:31am February 12th 2016 via Hootsuite
Flatley: Finsihed with https://t.co/IHTDoBJo20 for asymptomatic cancer screening and credits hard-working employees #AGBT16
Flatley: Lists new partnerships / companies: GRAIL, Helix, long reads (10X), single-cell with Bio-Rad #AGBT16
9:24am February 12th 2016 via Hootsuite
Flatley: Why discuss this so early? Can't keep it secret due to scaling production, also starting app dev #AGBT16
9:23am February 12th 2016 via Hootsuite
Flatley: 2 modules library prep feeding multiple sequencers. 1G/run, 4M reads, $100/sample, $30K for both modules #AGBT16
9:22am February 12th 2016 via Hootsuite
Flatley: Second cartridge does clustering, PE steps, 3.5h to 13h run-times. Driven off wireless iPad #AGBT16
Flatley: 9 sample system, 3.5h lib prep unattended. Electrode pads in disposable cart (is this Adv Liq Logic tech?) #AGBT16
9:21am February 12th 2016 via Hootsuite
Flatley: Product not until H2 '17. Low cost, reliable, ease of use, customer self-installation! <1 cubic foot in size #AGBT16
9:20am February 12th 2016 via Hootsuite
RT @PaulFlicek: Solexa branded notebook from AGBT 2006. #AGBT16 https://t.co/PLDybAkOxu
9:19am February 12th 2016 via Hootsuite
Flatley: Showed scatter-plot, showing read accuracy about 99%, 2x100bp runs #AGBT16
Flatley: Incorporates A, T labled and detected. A removed, C attached. T and C are labeled, read. Now all can be deconvoluted #AGBT16
Flatley:Single-dye - one-channel chem. G id starg, C tagged, A removable dye, T 'standard' #AGBT16
9:18am February 12th 2016 via Hootsuite
Flatley: DNA deposition aligns 1:1 over every pixel - borrowed from patterned flowcells. Structural design to elim cross-talk #AGBT16
Flatley: Showed CMOS firefly chip - one-color detection. Nanowells, surace layer compat for SBS. Excitation light block 1000x better #AGBT16
9:17am February 12th 2016 via Hootsuite
Flatley: Two directions - MiSeq with LED optics. Onto Avantome and CMOS sequencing potential in Firefly #AGBT16 https://t.co/TFUgHyg7EI
9:16am February 12th 2016 via Hootsuite
Flatley: Showed a number of stats. Moving along - he was an early buyer of an Apple LISA - 'not a good implementation' #AGBT16
9:14am February 12th 2016 via Hootsuite
Flatley: Techn involved: nanofabrication, optics, surface chem, informatics, dye chemistry, enzymology, fluidics, camera/sensors #AGBT16
9:09am February 12th 2016 via Hootsuite
Flatley RT @claritas4kids: #AGBT16 JF: current tools inadequate, will need deep learning tools to extract value
9:08am February 12th 2016 via Hootsuite
Flatley: First SBS - was Keji Zhao, in 6mos. Artem Barski first author. #AGBT16 '08 Cell https://t.co/rH8XWZfRDZ (BTW - my first customer)
9:06am February 12th 2016 via Hootsuite
Flatley: 40 people when they went public, now 5K (BTW @daleyuzuki was about employee 100) #AGBT16
9:04am February 12th 2016 via Hootsuite
