.@notSoJunkDNA I mis-heard the speaker (Bryan Traynor, NIA) - it was 8%, not 80% for sporadic #ALS
6:22pm April 10th 2015 via Hootsuite in reply to notSoJunkDNA
RT @GholsonLyon: Spatially resolved, highly multiplexed RNA profiling in single cells. Cool. http://t.co/We4uaI1ZTm
5:25pm April 10th 2015 via Hootsuite
RT @GeneQuan: Quantification noise in single cell experiments -- http://t.co/eSYD6y0EmL -- http://t.co/xK6StUULSN
4:45pm April 10th 2015 via Hootsuite in reply to GeneQuan
.@notSoJunkDNA I know the presenter personally - will ask him about it.
4:14pm April 10th 2015 via Hootsuite in reply to notSoJunkDNA
.@notSoJunkDNA Yes I was amazed at Bryan's talk - so many interesting discoveries...
3:16pm April 10th 2015 via Hootsuite in reply to notSoJunkDNA
RT @adrbaez: Genome ass'y & annotation, variant calling, SNP annotation, MLST & ABR gene finding: IonGAP http://t.co/v8iJBy6KKl @ion
3:15pm April 10th 2015 via Hootsuite
Hearing that Tron 3 was greenlighted reminded me to look this Glitch Mob remix of 'Derezzed'. Nice one. YouTube http://t.co/WIKqGTuwU3
2:45pm April 10th 2015 via Hootsuite
RT @crodarte: Exciting! We discuss key benefits (& challenges) facing #wearables as patient self-care tools http://t.co/pyszTyguIh
1:50pm April 10th 2015 via Hootsuite
BT:A2: "It's becoming clear that #ALS is not one disease; motor neurons either work or die, thus a host of reasons"
12:51pm April 10th 2015 via Hootsuite
BT:Q:For autism, many functional genes implicated A:Starting to evolve in #ALS - RNA metabolism; another is protein degradation.
BT:Q:Knockout mice? A:Several, other groups are working on it. Even cloning in the expansion - v. difficult to do #ALS
12:47pm April 10th 2015 via Hootsuite
BT:Q:Function of C9orf72? A:Can see domains of other proteins. For this: no domains. Unk function. Suggest: DNMN, export #ALS
12:46pm April 10th 2015 via Hootsuite
BT:Acknowledged support from NIA, NINDS, ALS Association, Microsoft research #ALS
12:45pm April 10th 2015 via Hootsuite
BT: Shows Parkinson's paper of 13.7K cases and 95K controls, 6 new loci 2014 Nalls et al http://t.co/u6tswbtBga wishes large cohort for #ALS
12:44pm April 10th 2015 via Hootsuite
BT: Shows figure from this week's #ALS Science commentary http://t.co/abBAEwc6re Overall a 15% genetic etiology for #ALS.
12:41pm April 10th 2015 via Hootsuite
BT: GWAS over the years for sporadic cases: Four Manhattan plots from 4 papers - 'a Dublin plot' (flat). #ALS
12:40pm April 10th 2015 via Hootsuite
BT: Function - MATR3 interacts with TDB-43; TDP-43 with FUS. MATR3 interacts with C9orf72 #ALS
12:38pm April 10th 2015 via Hootsuite
BT: #ALS Trial enrolling; 2014 paper about candidate therapeutic agents - http://t.co/rdxo2dd0AF
12:37pm April 10th 2015 via Hootsuite
BT: How to leverage clinically? NINDS 'has been stellar in supporting this effort' - a C9orf72 clinic. #ALS Trial: http://t.co/3phPh9Xuib
12:36pm April 10th 2015 via Hootsuite
BT: Looking at penetrance - now doing WGS of old-onset and early-onset #ALS and may determine a final pathway. Could be methylation...
12:35pm April 10th 2015 via Hootsuite
BT: Found C9orf72 in 1% of clinical Alzheimer's (6/771); two autopsies w/FTD 2012 NEJM http://t.co/XEpwK08G47 improves AD dx #ALS
12:33pm April 10th 2015 via Hootsuite
BT: Definite - #ALS and FTD. Also Huntington's. Possible: Alz, Schiz, Bipolar, Parkinson's, Multi-system atrophy, carticobasal syndrome
12:31pm April 10th 2015 via Hootsuite
BT: Think it was about 1,500 y.a. occurred in Finland and spread from there. Suspect Viking origin. #ALS '14 paper: http://t.co/NeHEq0GDgk
12:29pm April 10th 2015 via Hootsuite
BT: C9orf72 expansion #ALS 2012 Lancet Neurol http://t.co/clq5SuwAma Common haplotype indicates a common founder!
12:27pm April 10th 2015 via Hootsuite
BT: 'It was marvelous to explain to patient groups that #ALS had a genetic basis'
12:25pm April 10th 2015 via Hootsuite
BT: The hexanucleotide expansion accounts for almost 1/2 of familial #ALS - also 80% of sporadic ALS!
BT: Saw 2 reads cover that were mis-aligned. By hand - noticed a motif - found a repeat expansion. Massive expansion. #ALS
12:24pm April 10th 2015 via Hootsuite
BT: Sequenced 400x chr9 - E. Eichler helped analyze - 8 unique SNVs. 6 within 30bp. Showed IGV screencap - saw lack of coverage #ALS
12:23pm April 10th 2015 via Hootsuite
BT: Characterized a family with many #ALS in a small UK village. Suspected insert or inversion. Did flow-sorting for chr9 (in 2010).
12:21pm April 10th 2015 via Hootsuite
BT: Started to realize - took 3y to find the gene. Formed an Int'l 9p21 consortium. #ALS Renton et al '11 Neuron http://t.co/X0a0waZeYT
12:20pm April 10th 2015 via Hootsuite
RT @childrensmercy: Dr. Nussbaum, @UCSFChildrens: "Impt to remember newborn genomic sequencing is not a 'test' - it's a program." #Genome15
BT: 9p21 - found in a 7Mb region. #ALS GWAS paper in '10 http://t.co/7BafM0AbZC from population in Finland: narrowed to 232kb region.
12:18pm April 10th 2015 via Hootsuite
BT: #ALS third gene: MATR3 '14 Johnson et al http://t.co/dTzQDRcmnP Next: C9orf72 repeat expansion. 9p21 ALS/FTD locus ID'd via linkage '05
12:16pm April 10th 2015 via Hootsuite
BT: Shows ALS genetics in '05: only SOD1. First familial #ALS exome-seq paper, Johnson et al Neuron '10 http://t.co/oisQRVwOWP VCP ID'd
12:15pm April 10th 2015 via Hootsuite
BT: Example given of where you can get lucky with exome seq - Brown-Vialetto-Van Laere syndrome NIA's Singleton: http://t.co/ddGo7WVaTq #ALS
12:13pm April 10th 2015 via Hootsuite
BT: Genetics also for model development, understand pathogenesis, find potential targets for therapy. Often a 10y journey. #ALS
12:11pm April 10th 2015 via Hootsuite
BT: Why #ALS genetics? Typically easy to Dx; but can help in early-stage, to institute therapy. Impt: to give detailed counseling (children)
12:10pm April 10th 2015 via Hootsuite
BT: 'Who here knows David Niven?' What an age gap in audience! Lou Gehrig, Mao, Henry Wallace all affected by #ALS; more common than thought
12:08pm April 10th 2015 via Hootsuite
Today I'm at the #NIH hearing a friend Dr. Bryan Traynor on 'Genomics of amyotrophic lateral sclerosis' #AML http://t.co/wPV5MDfXx1
12:07pm April 10th 2015 via Hootsuite
RT @edyong209: I’m glad I wasn’t the only one who disliked Gawker’s Food Babe “takedown”. http://t.co/AIIsUSs4fm HT @keithkloor
11:40am April 10th 2015 via Hootsuite
RT @GenomeAtlantic: Would I have the genome of my baby sequenced? - opinion - 09 April 2015 - New Scientist: http://t.co/yadgJ3nH73
10:30am April 10th 2015 via Hootsuite
Our 8 books for young bioscientists Bitesize Bio http://t.co/4q5anY1ACb
9:30am April 10th 2015 via Hootsuite
RT @Mark2Cure: RT @alanROYGBIV: @rarediseaseuk carried out a survey of ~600 ppl affected by #rarediseases. (PDF) http://t.co/ljjpIPJzUN
8:00am April 10th 2015 via Hootsuite
Previously Top-secret Technology enables Whole-body “Google Maps” http://t.co/HgqHgL60En
7:10am April 10th 2015 via Hootsuite
Students Build Custom Robotic Arms And Give Them To Children Around The World | SF Globe http://t.co/lIzbdNNLBt
6:55am April 10th 2015 via Hootsuite
RT @Davos: 9 things highly successful people say every day http://t.co/aidzhuXFKV
5:30am April 10th 2015 via Hootsuite
Here’s what you “should” read | SciCurious http://t.co/erZa5gEMaD Very well-said, @scicurious !
4:05am April 10th 2015 via Hootsuite
Apple Watch review - CNET http://t.co/ZY8dvcXXQU
11:25pm April 9th 2015 via Hootsuite
RT @NickTimiraos: Jobs that require nonroutine cognitive thinking have been much harder to replace with robots http://t.co/JwbhW4eyzJ
10:25pm April 9th 2015 via Hootsuite
Apple MacBook (12-inch, 2015) review - CNET http://t.co/h6xVKc5DB8
9:30pm April 9th 2015 via Hootsuite
