RT @wef: #Millennials: ‘We expect to keep working till the day we die’ https://t.co/juosQUXs4v https://t.co/6hgZ80yc7b

1:05pm May 25th 2016 via Hootsuite

RT @robertmenzies: Impoverished background affects cancer risk later in life | CRUK https://t.co/2QnL6iKTBY

12:01pm May 25th 2016 via Hootsuite

No country for academics: Chinese crackdown forces intellectuals abroad | The Guardian https://t.co/5kd08fwEeM

11:10am May 25th 2016 via Hootsuite

Canadian Science Writers' Association - People's Choice Award for Fave Science Website https://t.co/Tk5cwEyHoF

10:01am May 25th 2016 via Hootsuite

Broken pottery reveals the sheer devastation caused by the Black Death - The Washington Post https://t.co/xSGUUmx4sX

9:00am May 25th 2016 via Hootsuite

Overtime pay for post-docs | Nature News https://t.co/cmnBroxpYS

8:00am May 25th 2016 via Hootsuite

Medicare Contractor Outlines Criteria for Analytical Validity of Circulating Tumor DNA Tests | GenomeWeb https://t.co/1J8S8gjMuI

7:55am May 25th 2016 via Hootsuite

China’s Science Revolution | BBC News https://t.co/a13McRLIph

6:55am May 25th 2016 via Hootsuite

For One Vermont Man, Sequencing His Whole Genome Solved A Life Of Pain | Vermont Public Radio https://t.co/wt9moUYTke

5:55am May 25th 2016 via Hootsuite

Two newborn deaths in the same family set off a race to solve a medical mystery | StatNews https://t.co/OKd71ZmwvO

4:55am May 25th 2016 via Hootsuite

RT @Luke_Hickey: Live stream of Roche Sequencing workshop at #ESHG2016 live now here: https://t.co/I8yMPfXJ05

3:54am May 25th 2016 via Hootsuite

RT @guardianscience: 'Eye-watering' scale of Black Death's impact on England revealed https://t.co/lT6G4tVj0S

9:20pm May 24th 2016 via Hootsuite

Where people drink the most booze and do the most drugs - The Washington Post https://t.co/rU4VHKfUBe

8:55pm May 24th 2016 via Hootsuite

Language Shrapnel – the challenge of profanity in print - The Chronicle of Higher Education https://t.co/aT0PViTSeE

6:40pm May 24th 2016 via Hootsuite

Keeping Busy May Prevent Memory Loss With Aging | NPR https://t.co/3bBD9yW9EY

4:40pm May 24th 2016 via Hootsuite

Garieri: Major markers are over-represented in the library. So need to find signatures for individ cell types. #ESHG2016

6:11am May 24th 2016 via Hootsuite

Garieri: Proportion 'quite different' than by gene exp. Can detect difference in cell size; clustering w/o main marker not clr #ESHG2016

6:09am May 24th 2016 via Hootsuite

Garieri: Across genes - INS, GCG, SST, PPT - can ID types, and proportions. Orthogonal - used branched DNA smFISH (Adv Cell Dx?) #ESHG2016

6:07am May 24th 2016 via Hootsuite

Garieri: 251 whole islets, 60 FACS beta cells. Ended up w/220 cells. Exp of INS gene: bimodal #ESHG2016

6:05am May 24th 2016 via Hootsuite

Garieri: Diabetes causes 1.5M deaths ('12) Five cell types, goal is to ID novel markers for each. 3 non-diabetic indiv s.c. islets #ESHG2016

6:04am May 24th 2016 via Hootsuite

Marco Garieri (Univ Geneva Switzerland) Single-cell RNA-seq analysis of human pancreatic islets #ESHG2016

6:03am May 24th 2016 via Hootsuite

Ferreira: Conclude: No new protein-coding genes, but new splice variants discovered. #ESHG2016

5:58am May 24th 2016 via Hootsuite

Ferreira: Ex - DPAGT1, assoc'd with disorder in glycosylation. Many novel exons leading to re-annotation #ESHG2016

5:58am May 24th 2016 via Hootsuite

Ferreira: Also testing limit with Dx genes. Used @PacBio to get full-length transcripts. On testis, >1.5K novel splice junctions #ESHG201

5:57am May 24th 2016 via Hootsuite

Ferreira: Testing limit of annotation w/MassSpec data. 52M spectra (data from Wrigth et al Nature Comm in press) #ESHG2016

5:55am May 24th 2016 via Hootsuite

Ferreira: Were able to validate 13,091/16,787 (78%) using GTEx and ENCODE; latter work validated 53% 664/1,243 targeted junctions #ESHG2016

5:52am May 24th 2016 via Hootsuite

Ferreira: Lower conf transcripts - EST, novel. using RT-PCRseq from 7 organs. Gene-spec primers, look at 18,030 splic junctions #ESHG2016

5:50am May 24th 2016 via Hootsuite

A. Ferreira (Swiss Inst Bioinf) Assessment of the GENCODE annotation through experimental validation #ESHG2016

5:49am May 24th 2016 via Hootsuite

Lerga-Jaso: Second class impact gene exp; inversions as cis or trans eQTLs. #ESHG2016

5:41am May 24th 2016 via Hootsuite

Lerga-Jaso: One signature - natural selection, where protein fn affected. Fig from '15 ref https://t.co/QqactnS2NO #ESHG2016

5:40am May 24th 2016 via Hootsuite

Lerga-Jaso: Looking at landscape, to char signature of inversion. Also impact on gene expression INVFEST project #ESHG2016

5:36am May 24th 2016 via Hootsuite

J. Lerga-Jaso (Univ Barcelona Spain) The landscape of polymorphic inversions and their functional impact in the human genome #ESHG2016

5:34am May 24th 2016 via Hootsuite

Stamoulis: Expression difference in sc fold-change same as bulk; gene dosage. Looking at random ASE as hypothesis #ESHG2016

5:23am May 24th 2016 via Hootsuite

Stamoulis: Use T21, from DZ twins but are discordant for Downs. T13, T18, T8 too. Used C1 (Fluidigm) #ESHG2016

5:19am May 24th 2016 via Hootsuite

Stamoulis: Until now studies have been done in bulk. But are trisomic cells have gene-dosage effect at single-cell level? #ESHG2016

5:18am May 24th 2016 via Hootsuite

G. Stamoulis Single cell allele specific exp (ASE) in common trisomies: gene dosage effects in Down syndrome, common aneuploidies #ESHG2016

5:17am May 24th 2016 via Hootsuite

Q: Any RNA profiling of these cells? Forsberg: Exciting preliminary data, shifting entire global expression pattern w/LOY #ESHG2016

5:16am May 24th 2016 via Hootsuite

Q: Fn of Y-chr in contribution? Forsberg: May be immunosurveillance #ESHG2016

5:14am May 24th 2016 via Hootsuite

Forsberg: 15-20% of >60yo men (>10% cells); survival only 1/2 as long #ESHG2016

5:12am May 24th 2016 via Hootsuite

Forsberg: LOY (loss of chrY) in men, describes prevalence (on the order of 5-8% >60y). Ass'n w/ AD '16 https://t.co/mxJL7GTVLS #ESHG2016

5:11am May 24th 2016 via Hootsuite

L.A. Forsberg (U Uppsala) Mosaic loss of chromosome Y (LOY) in peripheral blood increased risk of cancer and AD #ESHG2016

5:08am May 24th 2016 via Hootsuite

.@Sandi_Dheensa While looking around I did find this for VUS reporting: https://t.co/xgdqtE5P1S

4:53am May 24th 2016 via Hootsuite in reply to Sandi_Dheensa

.@Sandi_Dheensa I haven't followed reporting of VUS to pts very closely I admit - relaying what M-C King said about it though, makes sense

4:49am May 24th 2016 via Hootsuite in reply to Sandi_Dheensa

MT @genomicsedu: Mary-Claire King at #ESHG2016 opening up BRCA1/2 screening. More information on her work: https://t.co/yayWQ3aOkU

4:46am May 24th 2016 via Hootsuite

Mandel: Factor V Leiden: widely performed, little or no real clinical application. No guidelines from expert societies #ESHG2016

3:58am May 24th 2016 via Hootsuite

Mandel: Obvs application: genotype-guided dosage of Warfarin. But 3 papers in Dec '15 NEJM large studies, 'no effect' or 'modest' #ESHG2016

3:57am May 24th 2016 via Hootsuite

Mandel: With >5,000 genetic diseases, need pt and family involvement for natural history #ESHG2016

3:51am May 24th 2016 via Hootsuite