Sebra: Long list of known disease ass'n 'that require long reads'; and bigger cohorts. #AGBT16
12:45pm February 12th 2016 via Hootsuite
Sebra: Points to this '15 Nature Methods paper https://t.co/dnMebYsznA with a host of single-molecule approaches (BioNano Genomics) #AGBT16
Sebra: They have 2 PacBio SEQUELS. Tackled NA12878, impt for variety of haplotypes to completion, to design precise approaches #AGBT16
12:44pm February 12th 2016 via Hootsuite
Sebra: They are driving toward precision med. 7 HiSeq 2500/4000; 2 MiSeq, 10 Protons, 5 S5 XL, 2 PGM, 11 Ion Chefs 3 PacBio RSII #AGBT16
12:42pm February 12th 2016 via Hootsuite
Bobby Sebra (Mt Sinai Icahn SOM) "Leveraging SMART sequencing technology for developing niche assays with diagnostic potential" #AGBT16
12:41pm February 12th 2016 via Hootsuite
Ashley:Q:What's the priority? A:Know that one size does not fit all. NB: Livestream this here https://t.co/mQUAYs6wlG #AGBT16
Ashley: Concludes: complexity of the genome; ideal germline Dx is adequate coverage, solution to complex areas #AGBT16
12:38pm February 12th 2016 via Hootsuite
Ashley: Precision gene silencing - silencing mutant alleles, has generated data in a mouse model with iPS #AGBT16
12:37pm February 12th 2016 via Hootsuite
Ashley: Finishes with video of cardiac hypermyopathy. Looking at silencing genes in iPS cadiomycytes. then RNA-Seq #AGBT16
12:36pm February 12th 2016 via Hootsuite
Ashley: The ideal may be a multiple tech's. Scottish: "The right horse for the right course." #AGBT16
12:33pm February 12th 2016 via Hootsuite
Ashley: Shows figure from this Nature '15 https://t.co/Pezv6K7601 for structural var of size and number resolved via @pacbio #AGBT16
12:32pm February 12th 2016 via Hootsuite
Ashley: Shows sensitivity as a fn of indel length - striking decline the larger the indel #AGBT16
12:31pm February 12th 2016 via Hootsuite
Ashley: Assembly not good, and variant calling. Some solutions are graph references #AGBT16
Ashley: Onto HLA/MHC - makes a comment about complexity of HLA and many words on his slide. Capture not work well - polymorphisms. #AGBT16
12:30pm February 12th 2016 via Hootsuite
Ashley: What about Huntington's, w/expanding sequence? (CAG)n - there are 31 repeat conditions. List here: https://t.co/6p3eIJlUHf #AGBT16
12:29pm February 12th 2016 via Hootsuite
Ashley: Haploid? Risk alleles comes from real diploid people. But Factor V risk factor is in the ref genome. Homoz won't be called #AGBT16
12:28pm February 12th 2016 via Hootsuite
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
