A giant neuron found wrapped around entire mouse brain : Nature News https://t.co/rfEkMJNqY0
4:30pm February 27th 2017 via Hootsuite
A CRISPR/Cas9 startup launches on the R&D frontier, working on a one-time fix for Duchenne MD – Endpoints News https://t.co/Dcm1cTrcWu
3:30pm February 27th 2017 via Hootsuite
An epigenetics gold rush: new controls for gene expression : Nature News https://t.co/dNjFF583gE
2:30pm February 27th 2017 via Hootsuite
Going big: Biotech vets blast off with Arrakis on a new journey of RNA exploration – ENDPOINTS NEWS https://t.co/2TWS21bwJw
1:30pm February 27th 2017 via Hootsuite
The genome Aggregation Database (gnomAD) released today | MacArthur Lab https://t.co/TbQ9Pjy0qH
12:25pm February 27th 2017 via Hootsuite
Personalizing Treatment With ctDNA in Prostate Cancer | CURE Magazine https://t.co/Tm3hr5cAdJ
11:25am February 27th 2017 via Hootsuite
MT @DrKhouryCDC: Evidence for population screening for Lynch syndrome? #cancermoonshot https://t.co/N1uKwlBiDs https://t.co/6c3kNDHUIp
10:20am February 27th 2017 via Hootsuite
Study links working remotely to more stress, insomnia | MedicalXpress https://t.co/HTJzO2wjix
9:25am February 27th 2017 via Hootsuite
Craig Venter: Trying to decode death | Forbes Video https://t.co/AEGzZdz9jf
8:22am February 27th 2017 via Hootsuite
Biologists propose to sequence the DNA of all life on Earth | Science https://t.co/3XMZWaX5P5
12:50pm February 25th 2017 via Hootsuite
Reddit is Being Manipulated By Big Financial Services Companies | Forbes https://t.co/Vn6UTtwNuz Internet shilling = big business
6:15pm February 24th 2017 via Hootsuite
Paweletz: Truth is clinical outcome: validation PFS by tumor, plasma T790M status, response '16 ref https://t.co/zS75h53t8f #tricon
3:48pm February 24th 2017 via Hootsuite
Paweletz: Truth is clinical outcome: validation of plasma T790M vs response rate. PFS by tumor, plasma T790M status #Tricon
3:46pm February 24th 2017 via Hootsuite
Paweletz: Guardant work (n=113), <0.5% sens for EGFR Ex19del, cp to ddPCR. For L858R, consistent data #Tricon
3:44pm February 24th 2017 via Hootsuite
Paweletz: Blinded analysis of EGFR and KRAS w/matched NGS vs ddCPR results. Sens about 0.5%. '15 ref https://t.co/hiJDLqQeR1 #Tricon
3:42pm February 24th 2017 via Hootsuite
Paweletz: Between ddPCR to BEAMing: 92% concordance; ARMS (cobas) about 85% concordance. 'Not that great' #Tricon
3:40pm February 24th 2017 via Hootsuite
Paweletz: Collab w/Clovis (3rd gen TKI), had to be T790M+ cobas test; did BEAMing, did ddPCR. Truth was tissue. #Tricon
3:39pm February 24th 2017 via Hootsuite
Paweletz: Showed data from prospective clin trial ref https://t.co/mHCqarLRiT and prevalence data #Tricon
Paweletz: Uses contrasting, non-overlapping genotypes, to det gold std pos, neg populations. A ref range for each assay can be ID'd #Tricon
3:37pm February 24th 2017 via Hootsuite
Paweletz: Curves of 60,70,80,90% sens; and 99,95,90% spec - need to move to 100% specificity for clinical util #Tricon
3:36pm February 24th 2017 via Hootsuite
Paweletz: 90% sens, 98% specific, prevalence is 2%. 1K pts, 20 will have mut; 18/20 positive, 2 neg. But of 960 negs, 40 will be FPs #Tricon
3:35pm February 24th 2017 via Hootsuite
Paweletz: Validation of a new plasma assay depends 'on your interpretation of truth'. Discussion of specificity needs revisiting #Tricon
3:34pm February 24th 2017 via Hootsuite
Paweletz: Data for two pts from '14 ref EGFR https://t.co/jX1ubaXSp1 ex19del, EGFR T790M and progression #Tricon
3:32pm February 24th 2017 via Hootsuite
Paweletz: 8/44 no followup; 4/44 insufficient. #Tricon
3:30pm February 24th 2017 via Hootsuite
Paweletz: 3rd-line TKI req ctDNA; Clin trial, n=83 eligable, screen fail n=23; of 60 from '10-'15, 12 ongoing, 44 progressed #Tricon
3:29pm February 24th 2017 via Hootsuite
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
