YE: Data released at http://t.co/1sDGeE2X8z And with @joe_pickrell has a vision for https://t.co/5hqXMWZtX5 #AGBT15
6:38pm February 25th 2015 via Hootsuite
RT @CIgenomics: YE: see the video here http://t.co/RFDxohMiU8… #AGBT15
6:33pm February 25th 2015 via Hootsuite
RT @GholsonLyon: .@bioinfomagician I thought maybe this review by @leonidkruglyak & @frankwalbert might help: http://t.co/3jCuHTNdk1 #ag
RT @deannachurch: Pretty sobering to see the effect of war on longevity in @erlichya slide. #AGBT15
6:32pm February 25th 2015 via Hootsuite
YE: Using birth & death dates, can look at longevity. Asks whether they can replicate prior results w/1M datapoints, to 5th cousins #AGB
6:31pm February 25th 2015 via Hootsuite
YE: Showed great movie from 1400 on, and population growth. 'How cool is that?' Indeed! #AGBT15
6:29pm February 25th 2015 via Hootsuite
YE:Able to convert free text to GPS coord's via Yahoo Geoparser; color plot of geography (amazing map) #AGBT15
6:28pm February 25th 2015 via Hootsuite
YE:Calc of error rates: Paternal about 2% non-paternity rate, comparable to trad. studies. Onto environment now: birth, residence #AGBT15
6:27pm February 25th 2015 via Hootsuite
YE: What does a 13M pedigree look like? Plotted 0.5% (70K). Showed 24 steps between Kevin Bacon... #AGBT15
6:25pm February 25th 2015 via Hootsuite
YE: His own family tree - a 3rd cousin put the tree together, 43.7M public profiles using @Geni API. 6K indiv's in a tree. 13M! #AGBT15
6:24pm February 25th 2015 via Hootsuite
YE:Sibs vs twins: need large # of large kinships. At http://t.co/BhuPSDhhhz - upload of data, matches infer marriages & trees #AGBT15
6:23pm February 25th 2015 via Hootsuite
YE: Additive var's work independently; epistasis var's interact w/each other. Linear vs. a convex curve; sibs vs. twins #AGBT15
6:22pm February 25th 2015 via Hootsuite
YE: @erlichya invites everyone to tweet. Starts w/ complex traits being additive vs. epistatis. Vissher vs. Lander; then Kruglyak #AGBT15
6:21pm February 25th 2015 via Hootsuite
Yaniv Erlich, New York Genome “Dissecting the Genetic Architecture of Longevity Using Massive-Scale Crowd-Sourced Genealogy” #AGBT15
6:19pm February 25th 2015 via Hootsuite
RT @GenomeBiology: Lifton: need to focus on determining the consequences of mutation of every human gene #AGBT15
6:17pm February 25th 2015 via Hootsuite
RL: Q:Non-coding vs. coding var's & ascertainment bias? A: 3,000 in coding regions vs. 12 causative for known Mendelian disorders #AGBT1
RL: 'If you are interested in human health, in the next 10 years this is where (new discoveries) will come from' #AGBT15
6:12pm February 25th 2015 via Hootsuite
RL: "There's a lot left to be discovered; we just need to get on with it." #AGBT15
6:11pm February 25th 2015 via Hootsuite
RL: Other hormone-prod tumors behave similarly. 2014 Nature Gen paper http://t.co/jKJeMcyqXL PRKACA recurring mutation #AGBT15
6:10pm February 25th 2015 via Hootsuite
RL Found KCNJ5 recurrent mutations in K+ channel. 2011 Science http://t.co/JP4D2RuBld Found compounds capable to affect mut channel #AGBT15
6:09pm February 25th 2015 via Hootsuite
RL: Onto cancer: tumors that produce hormones. Found in 5-10% of severe hypertension cases; benign #AGBT15
6:07pm February 25th 2015 via Hootsuite
RL: Describes de novo CACNA1D, 2013 Nature Gen ref: http://t.co/O3ix5pZ4F5 #AGBT15
6:06pm February 25th 2015 via Hootsuite
RL: CUL3 and KLHL3 mutations in hypertension w/hyperkalemia 2012 Nature ref: http://t.co/GhpT5x4fPW #AGBT15
6:04pm February 25th 2015 via Hootsuite
RL: Hypertension story in '01: frustrating. Ref: http://t.co/koFN4ryJNQ Early-onset hypertension and WES ID 5 new genes. #AGBT15
6:02pm February 25th 2015 via Hootsuite
RL: For congenital heart disease - 2013 Nature paper describes de novo mutations http://t.co/x5eaZtzSqJ #AGBT15
5:58pm February 25th 2015 via Hootsuite
RL: 3rd illus. with KRT10 gene de novo mutation Choate et al Science 2010 http://t.co/i6BuEpW6aO
5:56pm February 25th 2015 via Hootsuite
RL: Another illus w/NRLC4 gene. Romberg Nature Gen 2014 ref http://t.co/lwWxsqJQSx Defining the syndrome and the disease #AGBT15
5:55pm February 25th 2015 via Hootsuite
RL: Illus w/ DYRK1B mutation and metabolic syndrome. Kermaiti et al 2014 ref http://t.co/ODzkjNK4S4 #AGBT15
5:53pm February 25th 2015 via Hootsuite
RL: NGHRI's Centers of Mendelian Genetics - 16K exomes to-date. 2010 GenomeWeb annc: http://t.co/LzT7pLKQF5 #AGBT15
5:51pm February 25th 2015 via Hootsuite
RL: Where are the missing Mendelian traits? Could be dom. reprod. lethals; extreme phenotypes from consanguineous unions (1 case) #AGBT15
5:50pm February 25th 2015 via Hootsuite
RL: Rare mut's of large effect 'are driving therapeutics of common disease and cancer'. Laundry list - Nav1.7 for pain, PCSK9 etc #AGBT15
5:49pm February 25th 2015 via Hootsuite
RL: Accused of ignoring environment in genomics. Pulls figure from '01 Cell ref on hypertension & salt http://t.co/idihg2hRTE #AGBT15
5:48pm February 25th 2015 via Hootsuite
RL: Impact of the HGP - preclinical cancer risk (BRCA1/2, MSH2/6, MLH1); settle dx of Mendelian disorders #AGBT15
5:46pm February 25th 2015 via Hootsuite
RL: A rush to sequence lots of whole-genomes 'mainly driven by industry' and we need to be careful. #AGBT15
5:45pm February 25th 2015 via Hootsuite
RL: >3k genes mutated in 4k Mendelian phenotypes; 'tremendous oppy for new discovery in coding regions' #AGBT15
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
