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 https://t.co/SwiIqNuK4R
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: https://t.co/VEeAYnA1ID @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 https://t.co/yAOoxQ3qma
@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?
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!
@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!