Ronnie Wright

ClinGen's CNV Technical Standards web series begins this Thurs Jan 16th with "Overview of the Updated Technical Standards for Constitutional CNVs" presented by Erin Rooney Riggs, MS, CGC from @GeisingerADMI clinicalgenome.org/tools/cnv-webi…

@Jon_Omics 😂 I think that must have been the lighting. I’ve never had a salmon shirt... well, not since my early twenties!

@GenomicsRonnie is always passionate when discussing genomics and the role of a Clinical Scientist. Looks dashing in a salmon shirt too.

What is a genomic scientist, what work do they do, and what are the career routes? Find out in our NEW film, the latest in our Genomics Specialist Careers collection: socsi.in/qarSc @NSHCS @HealthCareersUK #genomics #genetics

Our new gnomAD companion preprint, on the importance of transcript expression for interpretation. In gnomAD we see variants we don't expect (e.g. in haploinsufficient disease genes). Often found on alternative txs, with little evidence of expression 1/4 bit.ly/2SM7pr1

@northernassist They always seem to be allocated elsewhere. I’ve personally suffered twice this week alone. I’m asking whether the Southport services suffer disproportionately. Do you have any statistics on this?

@GenomicsRonnie Our planning team allocates carriages every day, based on what is available, however the number available can change due to unscheduled maintenance, disruption or alterations. (2/2) ^DS

@northernassist it’s me again! 17:59 Salford to Southport is shortformed. Do any other routes suffer from so many shortformed services?

Are there performance statistics which measure no. passengers left unable to board @northernassist? 17:19 Manchester Piccadilly to Southport short formed... again! Given the lack of frequency for this service (1 per hour) this shouldn’t be allowed to happen.

@TPEassist Discomfort? I never even managed to get on the train! Do TPE customers get priority when these decisions are made? Ironically, I’d prefer to board at Oxford Road but its no longer a scheduled stop for 17:19 to Southport following @northernassist shambolic timetable changes!

@GenomicsRonnie Hi Ronnie, really sorry for the discomfort. This service had to be started at Oxford Road due to an earlier broken down train blocking the line and I can appreciate it was extremely busy between Piccadilly and Oxford Road. ^AB

@NetworkRailMAN who makes decision that @TPEassist customers for 17:27 to Glasgow should board the 2 car 17:19 @northernassist service to Southport, so an unscheduled stop at MCO can be made for their convenience. Many Southport passengers left unable to board and abandoned!

@QIAGEN investing in Manchester. Great news for #Genomics and #lifesciences but more importantly, great news for the NorthWest. #NorthWestGotTalent. bbc.com/news/amp/busin…

We're supporting @JeansforGenes today! Staff cake sale with all proceeds going to #jeansforgenes bit.ly/2wR7a2b

Captured on camera! twitter.com/BioNewsUK/stat…

Very important to consider as we identify more and more rare private variants in many, many individuals! twitter.com/theTGMI/status…

We are recruiting for Clinical Scientists in Genetics of Genetics Bioinformatics to join our fantastic team! bit.ly/2up9dpF

Gene editing isn’t about designer babies, it’s about hope for people like me - thoughtful positive perspective theguardian.com/commentisfree/…

Human embryos edited to stop disease (BBC News) - Human embryos edited to stop disease bbc.co.uk/news/health-40…

Traditional variant interpretation processes are not suitable or practical for genetic testing being done today. bit.ly/genvariants

Read a copy of the Chief Medical Officer's report on genomics here bit.ly/2sBljz1 #GenerationGenome

BSGM pleased to see @CMO_England report place Genomic healthcare at the Centre of clinical care 1/2 bbc.co.uk/news/health-40…

Draft UK Best Practice Guidelines for Variant Classification are available on the website. acgs.uk.com/media/1059605/…