Dobrovic: Able to show tracking the rearrangement over time post-treatment via dPCR. Used Pyrosequencing to confirm #Tricon
2:43pm February 24th 2017 via Hootsuite
Dobrovic: In blood, need to do WGS of FF tumor; but able to look at rearr markers, easy to design https://t.co/khndBkldOV
2:42pm February 24th 2017 via Hootsuite
Alex Dobrovic (Olivia Newton-John Cancer Res Inst Aust) Clinical implementation of digital PCR for cancer diagnostics and monitoring #Tricon
2:41pm February 24th 2017 via Hootsuite
MT @SeraCare: Join us on March 1, 2017: webinar with clinical genomics case study https://t.co/96v7tKlCQC #Tricon
2:34pm February 24th 2017 via Hootsuite
Otte: This '15 paper had AUC of 0.87; https://t.co/o1IRXQSdhO they were able to get an AUC of 0.97 #Tricon
2:28pm February 24th 2017 via Hootsuite
Otte: Been able to get 97% detection early and late-stage across solid tumors (br, pr, lung, CRC) #Tricon
2:25pm February 24th 2017 via Hootsuite
Otte: Looking at data for prostate ca, likelihood scores and its discrimination to autoimmune and lung: 95% vs 19%, 25% #Tricon
Gabriel Otte (Freenome) Adaptive genomics engine for cloud-based maching learning of cfDNA to enable classification in cancer #Tricon
2:23pm February 24th 2017 via Hootsuite
d@genomenathan - let’s catch up before you take off! Text me at 301 326 6112 Dale
2:12pm February 24th 2017 via Hootsuite
Q: How common? Pearson: Goes into missing heritability; dep on the trait. Longevity was additive, but a hard phenotype (selection) #Tricon
1:39pm February 24th 2017 via Hootsuite
Pearson: Caregiver or pt: think - and request - genotypes. #Tricon
1:37pm February 24th 2017 via Hootsuite
Pearson: Bench scientists: need to help functionally assay genotypes. Clinical geneticist: think and report genotypes #Tricon
Pearson: We should switch 'before variant-centrism deeply pervades care'. Sequencee: share idnviduated genomes to boost power #Tricon
1:36pm February 24th 2017 via Hootsuite
Pearson: Genotypes abound (trillions), but only track informative ones as they slowly accrue; they overlap (need syntax, schema) #Tricon
1:35pm February 24th 2017 via Hootsuite
Pearson: Concludes w/5 examples from ClinVar, separating out family risk from acute problems for conditions (long QT etc) #Tricon
1:33pm February 24th 2017 via Hootsuite
Pearson: 224 families wth MSH2 pathogenic, 1/6 >90% lifetime risk, but 1/6 face <10% risk! https://t.co/Ts8ZXLJW7u #Tricon
1:32pm February 24th 2017 via Hootsuite
Pearson: Cmpd heterozygous etiology (recessive var's) Ex of 2 dominant genes but buffer each other https://t.co/WFdoaBqd57 #Tricon
1:30pm February 24th 2017 via Hootsuite
Pearson: So obvious that XX/XY for BRCA1/2 status we've forgotten or footnoted it. mtDNA haplotypes, HLA/Ig, CYP #Tricon
1:26pm February 24th 2017 via Hootsuite
Pearson: Calls it 'Mendel, meet Mendeleev'. Mendel knew the non-additive nature of dominance. XX/XY-dependance #Tricon
1:25pm February 24th 2017 via Hootsuite
Pearson: Variants are elements (rare penetrant, reference, hyper-recurrent); genotypes are molecules; zygosity is stoichiometry #Tricon
1:23pm February 24th 2017 via Hootsuite
Pearson: Rec 'd classifying and reporting genotypes, comb's of 1+ var's, at 1+ site(s), on 1+ chrom's. May interact non-additively #Tricon
1:21pm February 24th 2017 via Hootsuite
Pearson: We classify and report variants; but avoid impenetrance, tying to health presuming simple, strong effects #Tricon
1:20pm February 24th 2017 via Hootsuite
Pearson: Shows a periodic table all marked up. PubChem is how we track compounds and health. Shows the ingredient label for a banana #Tricon
1:18pm February 24th 2017 via Hootsuite
Pearson: But we do not track the chemistry of health. Nitrogen, 'harmless in diatomic free form, but caustic in case bonded w/O's' #Tricon
1:16pm February 24th 2017 via Hootsuite
Pearson: Pennyroyal (aborticent), headache tree (puke-ogen!), beetle pheromone (pest control). Spearment, caraway are enantiomers #Tricon
1:15pm February 24th 2017 via Hootsuite
Pearson: Molecular structure of C10H14O called 'sex, drugs and rock n roll'. Oregano, rosemary and thyme, saffron all the same #Tricon
Pearson: Same year 1865 knew and classified molecules; non-additive properties; nicotine was already char, toxicologically tracked. #Tricon
1:13pm February 24th 2017 via Hootsuite
Pearson: Explained the periodic table as a helix. 1865 had 56 elements, properties key to understanding the world (and tinker w/it) #Tricon
1:12pm February 24th 2017 via Hootsuite
Pearson: What would a TED talk be in 1865? Dodgson, Drawin, Mendel, de Chancourtois? The Telluric Helix #Tricon
1:11pm February 24th 2017 via Hootsuite
Pearson:Alice in Wonderland: a bottle saying 'Drink Me', 'contains carbon, hydrogen, nitrogen, oxygen' *may be hazardous (VUS) #Tricon
1:10pm February 24th 2017 via Hootsuite
Pearson: Shows a bottle with 'READ ME' label, ~6.6GB, and a long scroll inside. His own genome has ABCG2 R236X - carrier in AshJ #Tricon
1:09pm February 24th 2017 via Hootsuite
Pearson: Introduced as 'always interesting, always provocative' (yes that's him) #Tricon
1:07pm February 24th 2017 via Hootsuite
.@genomenathan Nathaniel Pearson (NY Genome Ctr NY) Mendel, meet Mendeleev. Why genotypes matter... and what you can do about it #Tricon
RT @GenomeNathan: Variants, shmariants! Let's ponder the mysteries of -genotypes- together, 10am Moscone room 309. #TriCon
1:02pm February 24th 2017 via Twitter Web Client
Mack: Showed interesting OS curves in panc ca separating out on KRAS status in ctDNA https://t.co/xYomOrJfFo #Tricon
12:58pm February 24th 2017 via Hootsuite
Mack: Can ctDNA ID resistance mechanisms? Fig from '14 rev https://t.co/zSWqyYVfER #Tricon
12:52pm February 24th 2017 via Hootsuite
Mack: Dist. of ctDNA alterations in ctDNA; MET ex14skip at 0.4%;MET ampl 5.7%; ERBB2 amp 4.4%; ROS1 fus 0.2%; ALK 1.3%; RET 0.9% #Tricon
12:49pm February 24th 2017 via Hootsuite
Mack: One exception in plasma was EGFR T790M, seen in plasma but not in TCGA due to pre-trtmt specimens #Tricon
12:47pm February 24th 2017 via Hootsuite
Mack: Showed evolution in KRAS, PIK3CA, between plasma and tissue over time. Exact same freq's #Tricon
12:46pm February 24th 2017 via Hootsuite
Mack: Liquid biopsy mut detection rates across tissue types: lung ca was 85%. Plasma ctDNA found truncal changes at TCGA freq's #Tricon
12:45pm February 24th 2017 via Hootsuite
Mack: Collaborating with Guardant, reported 8.3K NSCLC cases, cp to TCGA, showed mutual exclusivity of driver oncogenes #Tricon
12:44pm February 24th 2017 via Hootsuite
Mack: Another example, MET ex14skip as a driver. crizotinib in NSCLC; 10/15 pts with Complete Response. #Tricon
12:43pm February 24th 2017 via Hootsuite
Mack: For ROS1 and crizotinib, ORR 72%, physicans like to see this. #Tricon
12:42pm February 24th 2017 via Hootsuite
Mack: But largely adopted ones only are about a total of 22%; EGFR 14%, ERBB2 2%, fusions at 6% #Tricon
12:41pm February 24th 2017 via Hootsuite
Mack: ccfDNA stable for a few hours; already used in clinical practice. Shows pie chart of actionable lung ca drivers #Tricon
12:40pm February 24th 2017 via Hootsuite
Philip Mack (UC Davis CA) Are liquid biopsies ready for routine clinical use? #Tricon
12:37pm February 24th 2017 via Hootsuite
Febbo: Reimbursement w/evidence generation provide access to valid tests for pts, while generating data to support utility #Tricon
12:36pm February 24th 2017 via Hootsuite
(Febbo: Looking at the graph, its up to $207K per life year gained in 13.) #Tricon
12:35pm February 24th 2017 via Hootsuite
Febbo: Shows this fascinating graphic #Tricon https://t.co/33wPwMjojQ And here's a PDF https://t.co/WpJR8zygJk Price per year of life gained
12:34pm February 24th 2017 via Hootsuite
Febbo: For the healthcare provider, much more worried about the cost of the Rx, rather than the cost of the test #Tricon
12:31pm February 24th 2017 via Hootsuite
