Want to know more about genomic testing, but don't know where to start? Let the experts guide you in our video series: orlo.uk/fErLJ #genomics

Sooo excited to see our national automated reanalysis program funded! 🧬🤖 with Daniel MacArthur Seb Lunke @SallyHartmanis Denis Bauer Chirag Patel Ilias Goranitis #RareDisease #Genomics 👏👏👏 health.gov.au/ministers/the-…

Incredibly excited & proud to see our KidGen National Kidney Genomics Program funded to improve genomic outcomes for Australian families with genetic kidney disease!! 🎊🎊🎊🎊🎊🎊 James Cook Uni Murdoch Children's Research Institute (MCRI) University of Sydney Garvan Institute of Medical Research Australian Genomics health.gov.au/ministers/the-…

New! Prof Zornitza Stark & colleagues discuss the benefits of international collaboration for improving virtual gene panels None PanelAppAus bit.ly/2WDeddr

Hot off the press AJHG! Come read our new publication about using the PanelApp platform to harmonise gene panels between None Genomics England and PanelAppAus Australian Genomics. sciencedirect.com/science/articl…

Our latest ⁦AJHG⁩ sharing tools & knowledge improves gene & panel curation! Very proud of this #collaboration ⁦Ellie McDonagh⁩ ⁦None⁩ ⁦PanelAppAus⁩ ⁦Genomics England⁩ ⁦⁦Australian Genomics⁩ ⁦GA4GH⁩ 🧬🌏 cell.com/ajhg/fulltext/…

🚨NEW Article of the Month! Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 🆓access: bit.ly/2TTGRpC👈 Nine Knoers @EuRefNetwork Franz Schaefer @ERAEDTA #CKD #genetic #kidneydisease

#PanelApp pleased to contribute towards this collaborative curation effort for harmonising gene-disease assertions

Welcome to #Twitter Australian Functional Genomics Network: watch this space, exciting things to come, we are almost ready to roll!! 🤗🤗🤗 Australian Genomics KidGen Jozef Gecz Scott_lab_GMP Ian Smyth (Elizabeth) Emma Palmer (she / her) Chirag Patel Coral Warr Rob Bryson-Richardson Nathan Palpant Ebony Matotek

👉Do you work in clinical/diagnostic genomics in Australia? 🇦🇺 🤔What do you think about how we do #reanalysis? Will automation help improve this? 🧬🤖🔍 Have your say before 31st March: redcap.link/sqr5dm72 Takes <10 min, please retweet!

NEW in our blog: Learn about the repeating sequences in our DNA, why they can impact on health and how innovations in genome sequencing are making a diagnostic difference: orlo.uk/VCi8T #genomics #DNA

July #RareDisease panel update: 40 new gene-disease pairs added PanelAppAus Victorian Clinical Genetics Services (VCGS) Bryony Thompson Chirag Patel Special thanks to DiseaseGenes: helped us find more in less time! 🤖🤗 Next PanelAppAus training session is on Friday 29/7 at 2pm, contact Prof Zornitza Stark if keen!

SpliceVault predicts the precise nature of variant-associated mis-splicing | Nature Genetics nature.com/articles/s4158…

Now available from the ClinGen Disease Naming Advisory Committee, ClinGen Guidance and Recommendations for Monogenic Disease Nomenclature clinicalgenome.org/site/assets/fi…

Out now Nature Medicine results of our #AcuteCare Australian Genomics study 🇦🇺 Huge national effort: 290 critically ill 👶 2.9 days to WGS result ⏱️ RNAseq+proteomics+extra analysis 🔍 👉54% diagnosed, major impacts on care 🏥 rdcu.be/dd4M6 🧵

Diverse national cohort recruited from 17 🏥over 2yrs >50% less than 1mo 👶 Commonest reason for test: seizures and hypotonia 🧠 Tremendous work by our clinical teams in the midst of COVID 👏👏👏 Chirag Patel Kirsten Boggs Michelle de Silva Project coord Sophie Bouffler 🌟🌟🌟

54% diagnosed and still counting! Data on diagnostic yield in different groups Clinical care changed in 120 (77%) 🏥 Access to precision treatments 💊 Decisions about transplants and surgeries 🧑‍⚕️ Now time to make this standard of care!

📢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 A/Prof Danya Vears

Excellent lecture by Dr Les Biesecker on the upcoming new ACMG guidelines for variant classification. Highlights variant classification is a complex process. Looking forward to the final publication of guidelines.