May 2016

Lopez-Otin: From hypothesis-driven to agnostic approaches; thus involvement with ICGC. ESHG2016

9:31am May 21st 2016 via Hootsuite

Lopez-Otin: Original work was in ID'ing protease genes involved w/invasion by tumor cells; then the degradome (proteolysis) #ESHG2016

9:29am May 21st 2016 via Hootsuite

Carolos Lopez-Otin (Univ de Oviedo Spain) Deconstructing cancer and aging in the genomic era #ESHG2016

9:27am May 21st 2016 via Hootsuite

Ayuso: She concludes with five points of advice. "Be...: curious, empathic, collaborative, pragmatic and... hard working" #ESHG2016

9:24am May 21st 2016 via Hootsuite

Ayuso: Conection to mutational load for complex patterns of inheritance '15 ref https://t.co/cyNKNDtjQR #ESHG2016

9:18am May 21st 2016 via Hootsuite

Ayuso: Describes one gene discovered ZNF408 for IRD '15 ref https://t.co/0As7wkpqXF #ESHG2016

9:16am May 21st 2016 via Hootsuite

Ayuso: '15 IOVS ref https://t.co/lCnVo3xbIa Analytical sens/spec; clinical validity 36%. #ESHG2016

9:12am May 21st 2016 via Hootsuite

Ayuso: 2016 Sci Reports ref https://t.co/gYa1PupffO showed complex flowchart of decision tree #ESHG2016

9:10am May 21st 2016 via Hootsuite

Ayuso: In '11, use of NGS Dx rates improved to 55% (37-120 IRD genes) '12 WES Dx, '13 WGS Dx even better #ESHG2016

9:08am May 21st 2016 via Hootsuite

Ayuso: Over 5K cases, looking at 16 genes, Sanger, HRM. Dx rate 15%. #ESHG2016

9:05am May 21st 2016 via Hootsuite

Ayuso: Have organized a large international collaboration; ID new genes/pathways, new Rx targets, and standardize clin mgmt #ESHG2016

9:01am May 21st 2016 via Hootsuite

Ayuso: Progressive, 1/4k prevalence, genetically heterogeneous. Candidate for gene Rx, also considered rare disease #ESHG2016

8:59am May 21st 2016 via Hootsuite

Carmen Ayuso (Fundacion Jimenez Diaz Univ Hosp, Madrid Spain) The Spanish Experience of Retinal Dystrophies #ESHG2016

8:57am May 21st 2016 via Hootsuite

Barbacid: Concludes - that a better understanding of Ras signalling is still needed, to develop better potential Rx #ESHG2016

8:56am May 21st 2016 via Hootsuite

Barbacid: Treatment of spontaneous mutation causing rasopathies - use of a farnesyl transferase as a trtmt for Costello #ESHG2016

8:53am May 21st 2016 via Hootsuite

Barbacid: Shows data fro this '08 ref https://t.co/NivTyYRgIi Didn't observe slight mental retardation in mice #ESHG2016

8:50am May 21st 2016 via Hootsuite

Barbacid: Mouse models are for testing pharmacological effects. Great interest as 1/4 of cancers driven by Ras. #ESHG2016

8:47am May 21st 2016 via Hootsuite

Adaptive Biotechnologies Targeting Immunotherapy, Infectious Disease Research With New Assay | GenomeWeb ($) https://t.co/3pcZtnL4ZY

8:45am May 21st 2016 via Hootsuite

Barbacid: Mouse model for Noonan syndrome 2014 PNAS ref: https://t.co/elvd8ojiDw #ESHG2016

8:43am May 21st 2016 via Hootsuite

Barbacid: Costello phenotypes in mouse: facial dysmorphia, hypertrophic cardiomyopathy, hypertension, high birth wt. #ESHG2016

8:37am May 21st 2016 via Hootsuite

Barbacid: Reviews Costello syndrome, where all mut's are oncogenic, including G12V. Built a mouse model w/conditional H-Ras #ESHG2016

8:35am May 21st 2016 via Hootsuite

Barbacid: Many developmental syndromes (Noonan, Costello, Legius) where Ras signalling pathway activated #ESHG2016

8:29am May 21st 2016 via Hootsuite

Barbacid: Due to its central role, intensely studied. N-Ras and K-Ras encode small GTP-ases, not druggable after 40y #ESHG2016

8:28am May 21st 2016 via Hootsuite

Barbacid: Previously ID'd in retroviruses; shows structure of normal and oncogenic Ras proteins. Life isn't possible w/o it. #ESHG2016

8:26am May 21st 2016 via Hootsuite

NB - Dr. Barbacid discovered the first oncogene, K-RAS, in 1982 Nature ref: https://t.co/6JTT1302zs Set-up CNIO (Nat'l Cancer Res Ctr)

8:25am May 21st 2016 via Hootsuite

Mariano Barbacid (CNIO Madrid Spain) RAS genes and human disease: from rasopathies to cancer #ESHG2016

8:23am May 21st 2016 via Hootsuite

RT @GenomeBiology: Loman: Ebola mutates at 2 SNPs a month, meaning that 2 years after the outbreak, pathogen genome diversity was incredibl…

8:18am May 21st 2016 via Twitter Web Client

RT @GenomeBiology: Eichler: the field needs to move away from short-read sequencing, and alignments, to identify variants. Future is long r…

8:18am May 21st 2016 via Twitter Web Client

RT @erlichya: My #ESHG2016 privacy slides: https://t.co/T7ZeH313wz https://t.co/guk7YIcdSH

8:14am May 21st 2016 via Hootsuite

#ESHG2016 getting started in sunny Barcelona, expecting 3,300. https://t.co/7ONSyBob9z

8:07am May 21st 2016 via Hootsuite

Slips Through: mtDNA Rx may not always work | GenomeWeb https://t.co/2Qhz0aMNV1

7:40am May 21st 2016 via Hootsuite

Preventable Incidence and Mortality of Carcinoma Associated With Lifestyle Factors | JAMA Oncology https://t.co/mEmffSrYQu

6:20am May 21st 2016 via Hootsuite

Microbiome Biomarker Found that Triggers Rheumatoid Arthritis | Individualized Medicine blog https://t.co/nwxrfn9YO8

5:20am May 21st 2016 via Hootsuite

From Competition to Collaboration: precisionFDA Challenges | FDA Voice https://t.co/aIsIMSW7kG

4:20am May 21st 2016 via Hootsuite

Keep Your Smart Home Safe From Hackers - WSJ https://t.co/J2AhrbQtnG

10:20pm May 20th 2016 via Hootsuite

Theranos plans bold expansion even as troubles mount | StatNews https://t.co/wdMc3Dx0Pp

9:20pm May 20th 2016 via Hootsuite

Obama honors Mary-Claire King of UW, whose breast-cancer research saved lives | The Seattle Times https://t.co/npy8wNZ0ZQ

8:20pm May 20th 2016 via Hootsuite

Patients File HIPAA Complaint Against Myriad Genetics for Withholding Variant Data | GenomeWeb https://t.co/alA53IZtqE

7:20pm May 20th 2016 via Hootsuite

RT @hudsonalpha: #HudsonAlpha’s @lizworthy will be @eshgsociety conference May 21! She’ll discuss next gen sequencing & #WGS #ESHG2016

6:15pm May 20th 2016 via Hootsuite

Nanopore Sequencing for Rapid Detection and Characterization of RNA Viruses - Emerg Inf Dis https://t.co/nfKjTU1VFm

5:20pm May 20th 2016 via Hootsuite

TIL Nigeria is has the highest # of top-200 players. For World’s Newest Scrabble Stars, SHORT Tops SHORTER - WSJ https://t.co/toZfPfKIrt

4:10pm May 20th 2016 via Hootsuite

RT @girlscientist: When Kid asks you the tough questions over breakfast: “So, how important *are* you at work?”

2:40pm May 20th 2016 via Hootsuite

En route to #ESHG2016 - if any Twitter folks want to discuss @seracare or anything else, feel free to reach out!

1:44pm May 20th 2016 via Hootsuite

The post-work world RT @guardianscience: Silicon assassins condemn humans to life of uselessness https://t.co/7V0vBNhCEJ

1:35pm May 20th 2016 via Hootsuite

RT @DrKhouryCDC: Genome sequencing is tracking tail end of #Ebola epidemic. @wellcometrust https://t.co/vKgXXad8PI https://t.co/2hXEQKmk8k

12:35pm May 20th 2016 via Hootsuite

RT @theretronaut: 1838: The first photograph of a human being - https://t.co/h9nU7jPIdP https://t.co/XfSnnNb8lE

11:20am May 20th 2016 via Hootsuite

13 Classic Works of Literature With Upworthy Titles (I like #5) https://t.co/MmmXuF2STX

10:20am May 20th 2016 via Hootsuite

RT @Noahpinion: The explosion in American consumption over the last half century is mainly health care. https://t.co/EVSeayNtDQ https://t.c…

9:26am May 20th 2016 via Hootsuite