Alikian:Affect BCR-ABL1 able to oligomerization, dimerization, autophosphorylation. Gleevec - TKI - prevents ATP from binding #TRICON
1:14pm March 8th 2016 via Hootsuite
Alikian: Starts with CML hematopoesis; elevated blood count then tests of Ph+ - Ch 9 / Ch22 balanced translocation #TRICON
Alikian: CML: measurement of MRD (minimal residual disease). Outline - CML context, QS3D vs Bio-Rad vs RDT RainDrop #TRICON
1:13pm March 8th 2016 via Hootsuite
Mary Alikian (Imperial College) Clinical measurement of CML using RT-dPCR #TRICON
1:12pm March 8th 2016 via Hootsuite
Chair: "Standardization is essential" Introduces Mary Alikian via Skype... #TRICON
1:11pm March 8th 2016 via Hootsuite
Soto:Aim is for low-resource areas. Q:Technique for isothermal? A: Using LAMP (loop-mediated isothermal amplification) #TRICON
11:30am March 8th 2016 via Hootsuite
Soto: mIR-1, 133b 122-5p, 16-5p for physiological readout as a surrogate for muscle damage (from CrossFit) #TRICON
11:27am March 8th 2016 via Hootsuite
Soto Gastric ca: 3rd most common, no biomarker, more prevalent in Pacific Rim; working with collaborator in Chile, disc. 2 subtypes #TRICON
11:25am March 8th 2016 via Hootsuite
Soto: Have a microRNA Dx, differentiating in collaboration with UCSF, Hopkins #TRICON
11:23am March 8th 2016 via Hootsuite
Soto: Darwin affected by Chagas disease; 40% will develop cardiomyopathy b/c of this. Trtmt cases severe side effect #TRICON
11:22am March 8th 2016 via Hootsuite
Soto: Shows single-base isomir discrimination data; detecting River blindness; 120M at risk, central Africa #TRICON
11:21am March 8th 2016 via Hootsuite
Soto: Sensitivity down to 1 attomole RNA; showed RFU in the 2.2M to 3.6M range, including scrambled RNA oligo data #TRICON
11:19am March 8th 2016 via Hootsuite
Soto: Their first instrument:used a cellphone imaging. Pointed to a GitHub repo (but I get a 404 /microculus/miriam). #TRICON
11:18am March 8th 2016 via Hootsuite
Soto: mIR detection still expensive, complex protocols, They have a small device: visible signal. First instrument uses photos #TRICON
11:15am March 8th 2016 via Hootsuite
Soto: #Explosion of publications since '08 when stability in circulation shown. Built a text-search engine https://t.co/pi4Q1ZLO67 #TRICON
11:12am March 8th 2016 via Hootsuite
Soto: Looking at microRNAs as biomarkers. 18-24nt, post-xcr regulation of expression. mIRs are tissue-spec, extreme conservation #TRICON
11:08am March 8th 2016 via Hootsuite
Jorge Soto (Miraculus) Unlocking the potential of next-generation biomarkers #TRICON
11:06am March 8th 2016 via Hootsuite
Aspirin Found to Reduce Overall Cancer Risk | Bioscience Tech https://t.co/bhz6qFnDpP
10:10am March 8th 2016 via Hootsuite
How about a contrarian viewpoint? "I'll never give money to cancer research charities" | The Independent https://t.co/OBZnYG64N1
9:45am March 8th 2016 via Hootsuite
Single-Cell Sequencing Tool Provides New Approach for Studying Immune Response | GenomeWeb https://t.co/fHN0JE8YPk
8:01am March 8th 2016 via Hootsuite
The Blackest Material In The World Is Blowing Our Minds - Digg https://t.co/KE4cSd3nRI
7:02am March 8th 2016 via Hootsuite
How the Japanese Diet Became the Japanese Diet - Scientific American https://t.co/iUVd2JobQP
6:01am March 8th 2016 via Hootsuite
Five Reasons To Be Optimistic About The Precision Medicine Initiative - Forbes https://t.co/s1ifxzro1a
5:55am March 8th 2016 via Hootsuite
Lose Your Phone, Lose Yourself — 500ish Words — Medium https://t.co/vWBaFl3Bm0
4:50am March 8th 2016 via Hootsuite
Career Advice No One Tells You — Life Learning — Medium https://t.co/2JwCptx3cq
9:30pm March 7th 2016 via Hootsuite
Kingsmore: (Ends with a vdieo of an infant in an NICU waving.) #TRICON
9:08pm March 7th 2016 via Hootsuite
Kingsmore: Calculates 22K un-diagnosed in San Diego; 64K in So Cal; some 16.8K QALY saved from those 64K #TRICON
Kingsmore:Mentions metabolomics, phenomes, even more power with dynamic readouts in these NICU/PICU environments #TRICON
9:07pm March 7th 2016 via Hootsuite
Kingsmore:Mentions #AGBT16 - WGS de novo sequencing, allowing genome phasing, ID'ing new types of variation (@pacbio @nanopore) #TRICON
9:06pm March 7th 2016 via Hootsuite
Kingsmore:65% de novo dominant mutation for these infants. 18% cmpd hets #TRICON
9:04pm March 7th 2016 via Hootsuite
Kingsmore: Shows chart indicating 'no phenotypic feature ass'd with higher diagnostic yield' #TRICON
9:01pm March 7th 2016 via Hootsuite
Kingsmore:Their diagnostic yield 57% by trio WGS; 9% dx by std methods. Australian study also 57% yield, 14% by other methods #TRICON
9:00pm March 7th 2016 via Hootsuite
Kingsmore: 80 singleton WES from Australia Genet Med '16 ref https://t.co/pEQJ6d4Oc5 #TRICON
8:59pm March 7th 2016 via Hootsuite
Kingsmore: '72 quality adjusted life years saved' #TRICON
8:56pm March 7th 2016 via Hootsuite
Kingsmore:Outcome - Coagulopathy resolved on day 7; 7 surgeries corrected congenitcal anomalies. Normal liver fn #TRICON
Kingsmore: But Ala437Val and Ala91Val, made a diagnosis. NICU didn't believe it. Looking back, subtle symptoms were there. #TRICON
8:55pm March 7th 2016 via Hootsuite
Kingsmore: Able to take 913 potentially deleterious mutation to 2. PRF1 SNVs, compound het to autosomal recessive condition #TRICON
8:53pm March 7th 2016 via Hootsuite
Kingsmore: Presents Human Phenotype Ontology to help link phenotypes from plain text EMR; many tools but need work (Phevor etc) #TRICON
8:51pm March 7th 2016 via Hootsuite
Kingsmore: Should be able to automate var annotation; they've built a system called Viking; but use Omicia, StationX, Ingenuity #TRICON
8:48pm March 7th 2016 via Hootsuite
Kingsmore: Going to filter 5M to a single variant explaining the condition:Walks through process of filtering #TRICON
8:45pm March 7th 2016 via Hootsuite
Kingsmore:Shows comparison of older methods, GSNAP and Dragen, with more variants called, more likely and known pathogenic #TRICON
8:43pm March 7th 2016 via Hootsuite
Kingsmore:"One of the most amazing things in the last 3 or 4 years is the improvement in sequencing accuracy" - shows ROC curve nr 1 #TRICON
8:42pm March 7th 2016 via Hootsuite
Kingsmore: 120G bases -> Edico DRAGEN FPGA processing, to BAM and FASTQ; DNAnexus analysis to call 4.8M variants #TRICON
8:41pm March 7th 2016 via Hootsuite
Kingsmore:Modified HiSeq 2500 has 40x WGS in 1h; about $20K for a trio (cp to $2,700 for HiSeq X10) but 3.5d #TRICON
8:38pm March 7th 2016 via Hootsuite
Kingsmore: 18h run, 26h from start to finish. ILMN SeqLab: automated workflow mgmt, positive sample tracking, integration #TRICON
Kingsmore: Trio (both parents and child) DNA purified; 6h library made; shows HHMI video (here: https://t.co/vUYmhchNp4 ) #TRICON
8:37pm March 7th 2016 via Hootsuite
Kingsmore: Carrier status of parents, even paternity. A different world of testing - the parents very anxious, open-ended info #TRICON
8:34pm March 7th 2016 via Hootsuite
Kingsmore: Solving the bottleneck: getting consent is not a simple decision. Can find all kinds of things that affect parents #TRICON
8:33pm March 7th 2016 via Hootsuite
Kingsmore: Retrospective study shows chart from this '15 ref https://t.co/GjSyWoPTZl #TRICON
8:31pm March 7th 2016 via Hootsuite
Kingsmore: 8,000 named monogenic disorders. Cascade testing (std genetic tests) too slow #TRICON
8:30pm March 7th 2016 via Hootsuite
