Vendrell: Reviews criteria; and technology to analyze: microarray and NGS. Reviews strengths and limitations #ESHG2016
5:33am May 23rd 2016 via Hootsuite
Vendrell: One highly cited ref '13 Genet Med https://t.co/O8Ikwz8t8K for preconception screening #ESHG2016
5:28am May 23rd 2016 via Hootsuite
Vendrell: Guidelines for consensus, best practice, policy statements: alphabet soup ACGS, CMGS, ACMG, ACOG, EMQN, ESHG, ESHRE. #ESHG2016
5:27am May 23rd 2016 via Hootsuite
Vendrell: Scenarios: couples (w/consanguinuity); others who need gamete donors. Intent: avoid transmission of disorders, est risk #ESHG2016
5:25am May 23rd 2016 via Hootsuite
Vendrell: Preconception screening scans for risk - guidance for change in lifestyle, or to help reproductive decisions #ESHG2016
5:24am May 23rd 2016 via Hootsuite
Workshop Xavi Vendrell (Sistemas Genomicos Spain) Preconception care: expanded carrier screening #ESHG2016
5:22am May 23rd 2016 via Hootsuite
At #ESHG2016, although I missed the AstraZeneca workshop, they sure have a lot of BRCA1/2 test-quality materials at the ready. Impressive!
5:20am May 23rd 2016 via Hootsuite
Lehner: Reversing from hot to cold, effect lasts 14 generations. Shows movie of scoring. Shows w/o H3K27me3 no generational memory #ESHG2016
3:25am May 23rd 2016 via Hootsuite
Lehner: Induces expression in c elegans with higher temperature, 3 generation memory (epigenetic) to exposure effect persists #ESHG2016
3:20am May 23rd 2016 via Hootsuite
Lehner: Test histone mod affecting DNA replication - no H3K27me3; impaired replication globally de-represses heterochromatin #ESHG2016
3:16am May 23rd 2016 via Hootsuite
Lehner: Inhibit DNA repl proteins, de-repress the transgene. C. elegans embryo dev w/ mutant div-1 gene; mutant female, WT male #ESHG2016
3:11am May 23rd 2016 via Hootsuite
Ben Lehner (EMBL-CRG): Epigenetic consequences of transgene regulation (note: changed title of talk but flew past it.) #ESHG2016
3:08am May 23rd 2016 via Hootsuite
q: Brain tissue available? Guigó: Yes, 11 regions, but no ischemic time avail. Handled separately #ESHG2016
3:07am May 23rd 2016 via Hootsuite
Q: Can you get alt splicing info? Guigó: Yes, can see presence/absence, but 'very few', most in brain #ESHG2016
3:05am May 23rd 2016 via Hootsuite
Guigó: Have data for cocaine usage (preliminary, many organs). GTEx portal. https://t.co/yJTno3quNk Acknowledges donors, families #ESHG2016
3:04am May 23rd 2016 via Hootsuite
Guigó: Comments that sampling reflects population of the US; moves onto sex diffs as a chart by tissue, comments on br tissues #ESHG2016
2:57am May 23rd 2016 via Hootsuite
Guigó: One Af-Am lincRNA may be assoc'd with greater incidence of heart disease (given its organ specificity) #ESHG2016
2:54am May 23rd 2016 via Hootsuite
Guigó: Ethnicity: overexpressed genes in Europeans shows positive selection, cp to African-American. #ESHG2016
2:53am May 23rd 2016 via Hootsuite
Guigó: Showing male vs female gene expression differences; labels new candidate genes escaping X-inactivation (dozens). Top: MMP3 #ESHG2016
2:51am May 23rd 2016 via Hootsuite
Guigó: Looks at gene exp variation across tissues, individuals. Higher in protein coding RNA (mRNA) vs lincRNAs (0.49 vs 0.65) #ESHG2016
2:49am May 23rd 2016 via Hootsuite
Guigó: Shows PCA how organs cluster in PCA. Shows preservation between post-mortem samples and living samples similar clustering #ESHG2016
2:45am May 23rd 2016 via Hootsuite
Guigó: But bar-chart of samples/indiv show majority at 7, distribution skewed toward 5-10. '15 Science https://t.co/1TtLRH3e7M #ESHG2016
2:43am May 23rd 2016 via Hootsuite
Guigó: Organs in particular order; >21 and <70 yo, no Hx cancer, other disease or conditions. 1,641 RNA-Seq pilot, 176 individs #ESHG2
2:41am May 23rd 2016 via Hootsuite
Guigó: Dissection is rapid post-mortem; caHUB at Van Andel, SAIC-Frederick. Specimens from RPCI, VCU, and a National Resource bank #ESHG2016
2:40am May 23rd 2016 via Hootsuite
Guigó: Reviews GTEx - Ultimate study size (by 1/2017): 900 post-mortem donors, WES, WGS, 30 tissues/donor RNA-Seq (>20K total) #ESHG2016
2:38am May 23rd 2016 via Hootsuite
Guigó: Starts w/ a Rembrandt painting of an anatomy lesson. https://t.co/0EwlmHdpFA Points out ability for molecular char #ESHG2016
2:37am May 23rd 2016 via Hootsuite
Good morning! Roderick Guigó (Ctr for Genomic Regulation Barcelona) The human transcriptome across tissues and individuals #ESHG2016
2:35am May 23rd 2016 via Hootsuite
RT @lizworthey: Les bieseker: only 2 real discrepancies NGS vs sanger out of more than 5500 analysis. In 15 cases sanger wrong #ESHG2016
2:30am May 23rd 2016 via Hootsuite
RT @teedubya: The last 200 years of immigration to America. (Animated infographic) https://t.co/gDnGSxuroh
8:40pm May 22nd 2016 via Hootsuite
RT @ecancer: 'Sunscreen' gene may help protect against skin cancer https://t.co/Jeb4BICHRm https://t.co/CpzeUHKhPK
7:40pm May 22nd 2016 via Hootsuite
MT @LguzzardiM: Targeted #BRCA across large unselected #breastcancer cohort suggests 1/3 of mut's = somatic #bcsm https://t.co/jGGAsDhUMq
6:40pm May 22nd 2016 via Hootsuite
RT @NEJM: Aiming High — Changing the Trajectory for Cancer, by @NCIDrDoug and @NIHDirector https://t.co/IofHtAIwPe https://t.co/fvk9w59pvK
5:35pm May 22nd 2016 via Hootsuite
RT @GHRouth: "Use of Liquid Biopsies in Clinical Oncology: Pilot Experience in 168 Patients" on @LinkedIn https://t.co/b5rMCrYdlr
4:25pm May 22nd 2016 via Hootsuite
Schröck: Look forward to it, but 'we are far away' from a reliable public database of variants. #ESHG2016
2:32pm May 22nd 2016 via Hootsuite
Schröck: Need to merge variant lists to create in-house db's - 'superior to public data' due to local population effects #ESHG2016
Schröck: Reviews MIP method with UMI (barcoding) for highly sensitive variant calling. 'Getting rid of all PCR-based problems' #ESHG2016
2:29pm May 22nd 2016 via Hootsuite
Schröck: Data from last year (selected pts from clinical eval), single-gene, aCGH. All negatives: 31% solved via WES #ESHG2016
2:28pm May 22nd 2016 via Hootsuite
Schröck: Describes two difficult cases, where exome sequencing ID'd same gene Exosc2 #ESHG2016
2:24pm May 22nd 2016 via Hootsuite
Evelin Schröck (Tehnnical Univ Dresden Germany) Research using NGS in genetics and pathology #ESHG2016
2:20pm May 22nd 2016 via Hootsuite
From what I could find, Uitterlinden's funny #ESHG2016 slide was published in this (somewhat profane) book Amazon: https://t.co/FL4WuOUhw8
2:13pm May 22nd 2016 via Hootsuite
Uitterlinden: At >500K samples, no add'l charge for custom SNPs. Sliding scale of price/sample. 1.4M samples to-date #ESHG2016
2:02pm May 22nd 2016 via Hootsuite
Uitterlinden: 3 core facilities in EU: Erasmus MC, Life&Brain Bonn DE, CNG in Paris. Only genotyping, no analysis #ESHG2016
1:59pm May 22nd 2016 via Hootsuite
Uitterlinden: 770K SNP array, 660K consortium selected SNPs, up to 50K custom possible. $19-29/sample. Min vol: 150K #ESHG2016
1:58pm May 22nd 2016 via Hootsuite
Uitterlinden: Explains GiANT consortium, humorous descr of Manhattan, 'Dubai' and 'Holland' plots GSA = global screening array #ESHG2016
1:57pm May 22nd 2016 via Hootsuite
Uitterlinden: Shows slide of Gartner's hype cycle https://t.co/3QXXQtzDKc describes NGS in the trough (!) , genotyping plateau #ESHG2016
1:55pm May 22nd 2016 via Hootsuite
Uitterlinden: ("Slide stolen from Prof Axel Themmen") Tech push: '96 6 months for RFLP, '10 <0.0006 sec #ESHG2016
1:54pm May 22nd 2016 via Hootsuite
Uitterlinden: Humorous slide - why is the study of polymorphisms important? Football team comprised of the same player #ESHG2016
1:53pm May 22nd 2016 via Hootsuite
André Uitterlinden (Erasmas Med Center, Rotterdam) EU GSA-Consortium #ESHG2016
1:52pm May 22nd 2016 via Hootsuite
Goode: Reports only >5% allele freq at >500x coverage; can dig deeper. #ESHG2016
1:50pm May 22nd 2016 via Hootsuite
Goode: Onto TruSight 15: specific recommendations for FFPE; 20ng input; optimized for FFPE. #ESHG2016
1:47pm May 22nd 2016 via Hootsuite
