I will be @acgs_news Summer Conference in Birmingham next week and I would love to show you the @GeneyxGenomex analysis platform so please stop by and say hi in the breakout sessions! Short read, long read, genomes, exomes, we've got you covered.
We're really happy to have helped in a small way using our custom Nanopore rare diseases pipeline coupled to state of the art tertiary annotation with @GeneyxGenomex
If you want any more information - get in touch with Hannah!
Today I will be at @oxfordnanopore London Calling representing @GeneyxGenomex Visit our booth at the conference or online ro find out how to use Geneyx for analysis of long reads and more!
With colleagues from across the country we've developed a series of 'just in time' resources to support pharmacogenetic guided prescribing.
As testing isn't yet widely available in the UK for many medicines, we've developed three different resource types:
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Are we ready for #genomic newborn screening?
👶🧬🌏 #RareDisease
As multiple large studies launch internationally, @Rich_Genomics and I review the evidence and gaps that now need to be addressed to inform policy
📣Out now in @NatureRevGenet
👉https://t.co/DXjrT5wh4l 🧵
Glad I took the train, stunning scenery, en route to #ESHG2023 in Glasgow! Looking forward to seeing colleagues old and new, catching up on the latest in genomics and of course representing @Congenica!
A landmark week for pharmacogenetics with 3 milestones moving us towards implementation in the #NHS.
1. PREPARE was published in @TheLancet
2. N.Ireland set out deliver PGx testing.
3. A rapid genetic test to avoid hearing loss was provisionally recommended by NICE
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