Pal: Data of all types: family history, pt-reported device data; social, env data; medical and financial claims. Holistic view of pt #PMWC17
5:28pm January 23rd 2017 via Hootsuite
Pal: Need for intramural collaboration (extramural too); where to put the data, access to IT resources. Basically $ and people #PMWC17
5:26pm January 23rd 2017 via Hootsuite
Pal: He works with a lot of heathcare systems worldwide; there are two main challenges: Acquisition of data, Utilization of data #PMWC17
5:25pm January 23rd 2017 via Hootsuite
Pal:And greater expansion of applicable uses - where people are at risk, what to do about it. And greater utililization #PMWC17
5:20pm January 23rd 2017 via Hootsuite
Pal: PM 'is not new'. Innovation relates to scale - greater pace and volume of discovery, access to clin insight, testing #PMWC17
5:19pm January 23rd 2017 via Hootsuite
Summerpal Kahlon (Oracle) Intelligent care: translating data into insight #PMWC17 Starts with a photo of a small community hospital.
5:17pm January 23rd 2017 via Hootsuite
Kollu: Privacy; data ownership; incentives; infrastructure; standardization. ACMG statement: https://t.co/BbLgGk3SyL #PMWC17
5:13pm January 23rd 2017 via Hootsuite
Kollu: Needs automated interpretation, and brief human review (15 min). Depends on data sharing - plenty of barriers #PMWC17
5:11pm January 23rd 2017 via Hootsuite
Kollu: Estimates $10B has been spent on WGS/WES interpretation; makes the case that cost of interpretation needs to drop like seq #PMWC17
5:10pm January 23rd 2017 via Hootsuite
Kollu: Points to two references - Monroe et al, effectiveness of WES https://t.co/R2UuoQS1jr ; Soden et al 50% cases changes care #PMWC17
5:09pm January 23rd 2017 via Hootsuite
Kollu: Shows large chart of Dx yeidl from '13 through '16: from 22% and rising to as high as 55%-66% depending on condition #PMWC17
5:07pm January 23rd 2017 via Hootsuite
Kollu: Kingsmore's '12 STM ref https://t.co/tgESJZi8oB Dx of neonates offers closure for the parents #PMWC17
5:06pm January 23rd 2017 via Hootsuite
Kollu:20M in the US are affected by rare disease; 30% are dead in 5y. Cumbersome to diagnose. 7.6y to Dx in US. NICU is $8K/day #PMWC17
5:04pm January 23rd 2017 via Hootsuite
Gautum Kollu (Illumina) Whole genome sequencing: the final frontier #PMWC17 Today's talk - undiagnosed and rare disease. 1/200K or less freq
5:03pm January 23rd 2017 via Hootsuite
LeProust: Competitor analysis at CSHL via NGS of the pools of sgRNAs. Can make site saturation libraries; showed representation data #PMWC17
4:58pm January 23rd 2017 via Hootsuite
LeProust: Do oligo pools; can do genome-wide CRISPR, with Desktop Genetics for designs. 98% of sgRNAs w/1 mismatch: lost act. #PMWC17
4:55pm January 23rd 2017 via Hootsuite
LeProust: Believe they have the largest capacity; 9c/base (cp to 20c - 25c/base). >70K gene capacity in '16. Scaling 12-fold '17 #PMWC17
4:54pm January 23rd 2017 via Hootsuite
LeProust: >1M oligos on a single silicon chip. 121 unique oligos/nanowell. Able to go up to 1.8kb - for drug dev, gene editing #PMWC17
4:52pm January 23rd 2017 via Hootsuite
LeProust: Reviews some applications of synthetic biology for sustainability - method for malaria Rx, NK reprogramming #PMWC17
4:49pm January 23rd 2017 via Hootsuite
Emily LeProust (Twist Biosciences) Rewriting DNA synthesis. More (synthetic) genes, faster, cheaper. #PMWC17
4:48pm January 23rd 2017 via Hootsuite
Q: Magic wand, what to change? Chen: Getting better alignment of incentives and interests. Mega: How to show value to individuals #PMWC17
3:29pm January 23rd 2017 via Hootsuite
Utiramerur: Another case - cerebellar ataxia, datasharing efforts impt as all datasets are not equal #PMWC17
3:26pm January 23rd 2017 via Hootsuite
Utiramerur: (Prior case in Euan Ashley's intro, where chronic heart condition suspected genetic defect but sequencing missed) #PMWC18
3:25pm January 23rd 2017 via Hootsuite
Utiramerur: Long-read sequencing: sequencing is not a solved problem. 2kb heterozygous del in PRKAR1A gene, Roche Sequel picked up #PMWC17
3:24pm January 23rd 2017 via Hootsuite
Utiramerur: loom is their cloud workflow engeine - multi-step distributed workflows. Separates analysis from execution of methods #PMWC17
3:23pm January 23rd 2017 via Hootsuite
Utiramerur: Mechanisms for reprod and traceability: a Genome Information Mgmt System - abstracts away the HW layer. GIMS cloud-run #PMWC17
3:22pm January 23rd 2017 via Hootsuite
Utiramerur: Dx yield is about 30%: how to improve? Clinical: repeatable, traceable. Shows all instruments, methods, sources.#PMWC17
3:20pm January 23rd 2017 via Hootsuite
Sowmi Utiramerur (Stanford Healthcare) Genomics-assisted precision medicine Promises and Challenges #PMWC17
3:19pm January 23rd 2017 via Hootsuite
Mega: Concludes with Nightscout, an individual who hacked glucose data measurements for benefit of other pts https://t.co/bmWfqtmSeZ #PMWC17
3:18pm January 23rd 2017 via Hootsuite
Mega: Shows retina images from an opthamologist: image recognition for diabetic retinopathy JAMA https://t.co/bpYfBGxcOc #PMWC17
3:16pm January 23rd 2017 via Hootsuite
Mega: Liftware tremor-stabilizing spoon - helps people eat. Streams of data. 2010 compute 'where' turns to 2020 compute 'how' #PMWC17
3:12pm January 23rd 2017 via Hootsuite
Mega: Shows the gee-whiz contact lenses or a microchip glucose sensor - we will have more opportunity to integrate digital signals #PMWC17
3:10pm January 23rd 2017 via Hootsuite
Mega: Not only genotype, but analytes downstream. Behaviors of people. From glucometer to iPhone to computer. #PMWC17
3:08pm January 23rd 2017 via Hootsuite
Mega: Individual - "Collect. Organize. Activate." Uses Plavix study 2009 P450 PGx - https://t.co/eNLbQtXZsf #PMWC17
3:06pm January 23rd 2017 via Hootsuite
Jessica Mega (CMO, Verily, CA) Understanding health and disease 'at the individual level'. Convergence is accelerating. #PMWC17
3:03pm January 23rd 2017 via Hootsuite
Chen: Regulatory - CLIA/CAP, close to ISO 15189, initiating filing w/FDA for personalized vaccines. #PMWC17
3:01pm January 23rd 2017 via Hootsuite
Chen: Consortium called TESLA - Tumor neoantigEn SeLection Alliance, about 10 commercial organization to develop further #PMWC17
3:00pm January 23rd 2017 via Hootsuite
Chen: They are developing mass-spec based training data and negative training datasets. Need to validate all this: "it is key" #PMWC17
2:56pm January 23rd 2017 via Hootsuite
RT @atulbutte: Rich Chen: @PersonalisInc ACE ImmunoID Platform https://t.co/cUYnCM8AhB
2:55pm January 23rd 2017 via Hootsuite
https://t.co/CPvXoEK8C5
2:54pm January 23rd 2017 via Hootsuite
Chen: Points out that coverage varies in NGS data.Showed neoantigen districution across HLA alles in SYN1. RNA data too #PMWC17
Chen: Presents ACE ImmunoID, using exome of tumor/normal. From 10K to 100's of NS Somatic Muts to a handful of neoantigens #PMWC17
2:52pm January 23rd 2017 via Hootsuite
Chen: Neoantigens: attractive target, unlikely to trigger autoimmune response, incl info on tumor microenvironment, escape mech's #PMWC17
2:50pm January 23rd 2017 via Hootsuite
Richard Chen (Personalis): Only 10-30% of pts respond to checkpoint inhibitors. Neoantigen-based personalized cancer vaccine #PMWC17
2:49pm January 23rd 2017 via Hootsuite
The cost of hot selfie app Meitu? A healthy dose of your personal info | TechCrunch https://t.co/huo5u039yI
10:42am January 20th 2017 via Hootsuite
Second Theranos Lab Failed U.S. Inspection - WSJ https://t.co/vfhCyYH592
9:15am January 18th 2017 via Hootsuite
Targeted DNA sequencing and in situ mutation analysis using mobile phone microscopy - Nature https://t.co/3aUkGt1ZXe
6:46am January 18th 2017 via Hootsuite
RT @SeraCare: On #NGS-based #gene panels for #hypertrophic #cardiomyopathy https://t.co/euYm7oO4xf #HCM https://t.co/R2X3VOVT2X
3:30pm January 16th 2017 via Hootsuite
RT @GenomeWeb: The event to learn about #PrecisionMedicine #Dx #clinicalsequencing in #SiliconValley #PMWC17 https://t.co/K21WcrztRF
RT @pickover: Imagine explaining this joke to someone in 1950. https://t.co/yuPurdDvri
2:18pm January 16th 2017 via Hootsuite
