I’m happy to share our preprint “Flawed machine-learning confounds coding sequence annotation“ doi.org/10.1101/2024.0… A collaboration with Otago Biochemistry and Plant & Food Research scientists Mik Black Ting-Hsuan Chen #Genomics #Bioinformatics #ncRNA #lncRNA #protein 1/n

Our first elife reviewed preprint elifesciences.org/reviewed-prepr…

Is the SmidgION finally here???

Telomere to telomere assembly of mammalian genomes #nanoporeconf

📢 We're thrilled to be hosting international genomics leader Dr Eric Green (Eric Green) for a special hybrid event: ‘Creating the Fourth Chapter of Human Genomics’ on Tue 2 July, 12pm (AEST). Learn more & register 👉 tinyurl.com/3373vmbd #genomics #research #humangenome

📢Out now European Journal of Human Genetics our audit and surveys of current practice 🇦🇺 in #raredisease genomic reanalysis 👉rdcu.be/dIZe9 We are doing more and more testing 📈 but very little reanalysis (<5%) 🧵 Stephanie Best Zoe Fehlberg Ilias Goranitis Scott_lab_GMP Dr Danya Vears

🤔 Why? Shortage of clinical and laboratory workforce 👩‍🔬👩‍⚕️is the main barrier But also lack of policies and guidelines Heavily manual processes, unclear funding pathways ➡️ inequitable outcomes 🤖 Positive attitudes towards role of automation: can we make it work?

Wake up X, interesting paper revealing new insights into adoption of clinical genomics (and re-analysis) just dropped!

It’s time we bite the bullet and 🗳️ legislate to ban discrimination based on genetic heritage and genetic testing. 🧬 No one should be judged or disadvantaged because of their DNA. Let’s protect our future generations and ensure equality for all! ✊ #GeneticEquality #LegislateNow

#ESHG2024 Prof Zornitza Stark presenting on scalable automated reanalysis in #raredisease. If we continue as we are, it will take 70 years to reanalysis all the datasets! High time for some innovation in this space to benefit the patients and families!

🔥Join our next Fireside Chat with Daniel MacArthur and Kathryn North The event will take place on 25 June 2024 at 21:00 UTC. Register for the virtual chat: bit.ly/3yKzV22

and for my sins, I had to use UQRDM

It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine dlvr.it/T8F1G8

Out now Nature Medicine 🔥🔥 #genomic NBS: the challenges are daunting But we have a responsibility to lead research in public health systems 🇬🇧🇦🇺 Exeter Rare Disease Richard Scott Siddharth Banka Louise Fish Sarah Wynn Dominic Wilkinson James Buchanan Daniel MacArthur nature.com/articles/s4159…

📣 our latest BabyScreen+ paper now out European Journal of Human Genetics Process changes needed to deliver #genomic NBS: what, when and who? Key informant interviews 🇦🇺 👉rdcu.be/dLzRV 👏Stephanie Best Erin Tutty Dr Alison Archibald Lilian Downie Prof Clara Gaff Dr Danya Vears Seb Lunke

California Joins 13 States for evidence-based pharmacogenomics (PGx) testing now covered by Medi-Cal (AB425) & commercial insurers (SB496) Great step towards #PrecisionMedicine impact annual loss of 33,000 lives and $62B spend due to non-optimized medications + dosing

If you, or someone close to you, has been diagnosed with an advanced, incurable or poor prognosis cancer, at Omico, we are dedicated to help. We invite you to explore the info below to learn more about Omico, comprehensive genomic screening and the pathways to clinical trials and