b-jennings
My experiences, tweets and retweets from #ESHG2018 conference in Milan. Lots of #openscience with shared breaking-news data & shared software/resources.
We are completing WES study of families with several affected individuals in each pedigree. So far we have a biobank of 66 participants from 13 multiply affected families #cholesteatoma.
Crikey! Day 2 #ESHG2018 https://t.co/XUmyRnJAQc
At #ESHG2018. Come see my talk on genomic sequencing 15,000 healthy elderly. 6.30pm in the “What’s new?” session, PL2 Gold Room. #penetrance @Monash_SPHPM @ASPREE_aus
47 actionable drug / #PGx associations. Most to avoid serious ADRs @drykloke Realistic NNT data and impressive implementation from TOPIC & ALPE trials. Real - world utility study in progress #H2020 https://t.co/BwLgmTmw2R
#ESHG2018 designs out some of the education problems for clinical translation / implementation. Mark Ratain was emphatic that physicians 1 . Don't want to wait on lab data 2. Don't understand pharmacology-speak 3. Don't understand genetic nomenclature ... https://t.co/E3On0ry85P
Very useful and interesting overview by the speakers about PGx field progress, direction and resources. Agree @pharmgkb resources are invaluable. #eshg2018 https://t.co/lb2fd9SZC8
#cholesteatoma
@Ddysmo @SerenaNikZainal Agree, a masterclass in how to deliver keynote. Superb science explained with great clarity and wit. Inspiring #eshg2018
Non coding; structural; and coding pathogenic variants identified in 42 families. Value of #WGS. https://t.co/GZSqr033Fc
Check out this software introduced in Will Fairbrother's talk for prediction of impact of variants on splicing https://t.co/bWf87fwDe1 #ESHG2018
RT for @L_F_Johansson our next MOOC run is October. Will be updating over the summer in readiness with links to / discussions of studies that I heard presented here first. Great educational sessions #ESHG2018 https://t.co/sGRzgeD2R5
@mycoacia If you were unable to make it, or you want to revisit the materials you can find the presentation and coursebook with screenshots of the demo here: https://t.co/tsyo6XAg4c #ESHG2018
The latest from DDD (https://t.co/Q9XIgFrmH8) is up on @biorxivpreprint https://t.co/jt7C8ATfME Work led by @ma_niemi on the role of common variation in rare, severe, neurodevelopmental disorders. (thread for summary of findings)
#ESHG2018 Phil Jones is telling us about age-related mutational load & clonal evolution. 25 % of normal epithelial cells in oesophagus have somatic P53 mutations by 65 years. Fascinating Presentation:
S14.3 Evolutionary selection of oncogenic mutant clones in normal epithelia
Emma Lundberg introducing us to Eve Online & fabulous pattern recognition #citizenscience project #ESHG2018 - Inspiring Presentation:
S14.2 Dissecting the spatiotemporal subcellular distribution of the human proteome
#ESHG2018: great presentation by Stephen Quake - used entropy as metaphor for age-related transcription disorder.
S14.1 Single-cell sequencing to understand the biology of cellular heterogeneity in health and disease
#ESHG2018 Phil Jones is telling us about age-related mutational load & clonal evolution. 25 % of normal epithelial cells in oesophagus have somatic P53 mutations by 65 years. Fascinating Presentation:
S14.3 Evolutionary selection of oncogenic mutant clones in normal epithelia
