Rick Lifton (Yale Univ) "Genes, Genomes and the Future of Medicine" #AGBT15
5:44pm February 25th 2015 via Hootsuite
DG:A con't: After lots and lots of WGS we can see the effects of purifying selection #AGBT15
DG:Q:Given regulatory risk mut's, WGS vs WES? A:WES 'quite reasonable choice'; don't find 'an awful lot' in WGS for causative #AGBT15
5:43pm February 25th 2015 via Hootsuite
DG:Q:What fx of ALS can be explained? A:Familial ALS >50%; otherwise ~10% #AGBT15
5:41pm February 25th 2015 via Hootsuite
Precision Med Journal to Launch, called Cold Spring Harbor Molecular Case Studies | GenomeWeb http://t.co/J5baNECxku #PMINetwork
5:40pm February 25th 2015 via Hootsuite
DG:Q:Change in std of care for epilepsy? A: 'We are already there for early-onset' #AGBT15
5:39pm February 25th 2015 via Hootsuite
DG: New institute announced at Columbia in NYC "IGM" #AGBT15
5:38pm February 25th 2015 via Hootsuite
DG: Gives illus. of extreme upper-body weakness. 'She would not have been diagnosed' PubMed Foley et al http://t.co/WXnEv4gp32 #AGBT15
DG:'Even if it's in a brand-new gene', even though crude - indiv's w/different conditions. Need et al http://t.co/Dod2KtffqQ #AGBT15
5:36pm February 25th 2015 via Hootsuite
DG: Amongst controls: 1.9% had a hot zone de novo mutation in an essential gene. 15.2% of the cases of pediatric sequencing clinic #AGBT15
5:34pm February 25th 2015 via Hootsuite
DG: Seq in the clinic: lessons include 'signatures of cause mut's amongst de novo mutations' #AGBT15
5:33pm February 25th 2015 via Hootsuite
DG:ALS - a few genes; TBK1 provides clear guidance for drug development; interacts with well-known SOD1 gene; mut's in autophagy #AGBT15
5:32pm February 25th 2015 via Hootsuite
DG:Using ALS as another example - from genetics to drug targets. 3.2K cases vs. 6.2K cntls - Q/Q plot shows a few sig genes #AGBT15
5:31pm February 25th 2015 via Hootsuite
RT @pathogenomenick: Just finished my second genome with the new @nanopore assembly strategy ... this time GC ~35%
DG:Celf4 knockouts respond to Prozac: in vitro shows elevated spikes in action potentials cp to wild-type, Prozac-responsive #AGBT15
5:29pm February 25th 2015 via Hootsuite
DG: Multielectrode array - fn char of mut's. W. Frankel's mouse model of Celf4 (RNA binding prot); Celf4 deficient mice = epileptic #AGBT15
5:28pm February 25th 2015 via Hootsuite
DG: This approach depends on known effect of mutation; so impt for fn.'l characterization. 'We need model systems.' #AGBT15
5:26pm February 25th 2015 via Hootsuite
DG: ID of pathogenic var in indiv.; unk. if it was de novo; showed inferred ancestry plot, shows KCNT1 in Ashkenazi Jewish pop #AGBT15
5:25pm February 25th 2015 via Hootsuite
DG: 'As we use genetics to target diseases more and more, we need to be careful to get genetics right'. #AGBT15
5:23pm February 25th 2015 via Hootsuite
DG:One with 'intractable seizures'; # of seizures 'cut in half'; another is seizure-free (!). Both de novo KCNT1 mut's. n=only 3 #AGBT15
5:22pm February 25th 2015 via Hootsuite
DG:Quinidine never used for epilepsy before. Suggests it could be used as a targeted treatment (dep on genotype) #AGBT15
5:21pm February 25th 2015 via Hootsuite
DG: KCNT1 - potassium channel w/key role in 2 different epilepsies. Petrou: showed gain of fn KCNT1 activity altered by quinidine #AGBT15
5:20pm February 25th 2015 via Hootsuite
DG: Thus in epilepsy - can explain 12% of the cause; similar to cancer can 'allow the application of a precision therapeutic' #AGBT15
5:18pm February 25th 2015 via Hootsuite
DG:Synaptic vesicle trafficking in DMN1 mutation: Dhindsa et al Annal Neuro (in review) #AGBT15
DG:12% of individuals genetically explained by a causal de novo mutation. 8/386 w/GABA receptor mut's; 12/356 w/vesicle trafficking #AGBT15
5:16pm February 25th 2015 via Hootsuite
DG: Probands - affected + parents; definitive genome-wide risk genes ID'd. 'More than expected de novo mut's in particular genes' #AGBT15
5:15pm February 25th 2015 via Hootsuite
DG: epi4K - large-scale gene discovery for epilepsy. 'We didn't think it would work as well as it did'. 356 w/infantile spasms #AGBT15
5:14pm February 25th 2015 via Hootsuite
Eric Green (Dir NHGRI) introduces David Goldstein (now at Columbia) "Toward Precision Medicine in Neurological Disease" #AGBT15
5:13pm February 25th 2015 via Hootsuite
Nice to see Sat’s @iontorrent talk at #AGBT15 previewed on-screen. http://t.co/iXwiDEWeHL
5:02pm February 25th 2015 via Hootsuite
RT @matthewherper: How to Develop New Antibiotics http://t.co/J9yUu9vx9T Zeke Emanuel says we need a $2 BILLION per company prize.
4:30pm February 25th 2015 via Hootsuite
RT @DrKhouryCDC: Is mutation rate variation across the human genome due to differential DNA mismatch repair? @nature http://t.co/p7zUdUcQwH
3:55pm February 25th 2015 via Hootsuite
Quite the contrast. 17F vs 70F DCA vs RSW #AGBT15 http://t.co/lMivPlRztc http://t.co/IIa5LN0B4D
3:48pm February 25th 2015 via Hootsuite
The Hidden Cost of a Flexible Job - The Atlantic http://t.co/6Z2Lg6mjq6
2:31pm February 25th 2015 via Hootsuite
RT @PacBio: Missing #AGBT15? You can still see our workshop via live stream on Fri. with @JCVenter @TheGeneMyers http://t.co/nr06sTjToX
1:31pm February 25th 2015 via Hootsuite in reply to
RT @naturejobs: Stacey Gabriel proves that being a top scientist doesn’t mean you need to be 1st author on papers http://t.co/4XronuGigP
12:40pm February 25th 2015 via Hootsuite in reply to
RT @TheEconomist: Adult obesity in America isn't budging. The heaviest states '12 http://t.co/DDd0soaBcu #econarchive http://t.co/asoseSvpgQ
11:05am February 25th 2015 via Hootsuite
Study Describes Initial Development of New Ion PGM Solid Tumor Hotspot Panel | GenomeWeb http://t.co/RE0CAPbc8t
10:40am February 25th 2015 via Hootsuite
RT @ldtimmerman: 10X Genomics Unwraps Its ‘Toaster Oven’ for Better DNA Sequencing http://t.co/ynSts6e1Ax via @forbes #agbt15
10:22am February 25th 2015 via Hootsuite in reply to
.@h2so4hurts Eric Green chatting with @genedx - I teased him that #AGBT15 wasn’t starting w/o him... http://t.co/vBYbuOsP23
10:20am February 25th 2015 via Hootsuite in reply to
.@h2so4hurts Nice work on that feed! Bookmarked for a busy #AGBT15 (noticed Eric Green waiting at DCA for same delayed flt to RSW...)
9:58am February 25th 2015 via Hootsuite in reply to
RT @10queues: Take note: all the numbers suggested this would happen: toddler dies in measles outbreak in Germany http://t.co/Ya1Doeve0c
9:20am February 25th 2015 via Hootsuite in reply to
RainDance, U Chicago Sue 10X Genomics for Patent Infringement | GenomeWeb http://t.co/FfUP1J40ja
8:40am February 25th 2015 via Hootsuite
This Week in Nature: the NIH Epigenome Roadmap | GenomeWeb http://t.co/r0rCtXTWJr
7:10am February 25th 2015 via Hootsuite
Protip: search "#AGBT15 -RT -@nameofcompany" for cleaner feed. Also: new @cynvenio single-cell analysis post http://t.co/VeASDgIXT3
5:33am February 25th 2015 via Hootsuite
RT @cosmos4u: Seems the @MarsOneProject is crashing faster than even its critics expected; main business partner out: http://t.co/5nNZCQ6y85
5:05am February 25th 2015 via Hootsuite in reply to
Infographics Science: The Surprising Way The Brain Processes Visuals http://t.co/IOoY18xnx6
4:05am February 25th 2015 via Hootsuite
Your Kid's School Is Missing the Tech Revolution, and It's All Your Fault | WIRED http://t.co/5V87Ro1cgJ
10:55pm February 24th 2015 via Hootsuite
RT @h2so4hurts: Hoping to see many of you over the next few days! Here are my 5 predictions for #AGBT15 - http://t.co/q3GMe9lTIn
9:09pm February 24th 2015 via Hootsuite
Photographer Develops 31 Lost Film Rolls Taken by World War II Soldier http://t.co/QtU6rZ9I0I
8:45pm February 24th 2015 via Hootsuite
RT @The_SM_Bloke: The Science of Infographics: The Surprising Way The Brain Processes Visuals: http://t.co/gqof9bt1Ma http://t.co/Y6c4OVY1j1
7:55pm February 24th 2015 via Hootsuite
