Big learnings from the use case shared by Cameron Bean Max Kelsen x Queensland Health partnership in integrating AI/ML into clinical practise. Moving forward it is about creating trust through demonstrating algorithmic safety. #ReimaginingHealthGenomics

Honoured to present our work at #ASHG21! Thank you to the families that placed their trust in our research and every co-author in this incredible international collab esp Dr Colleen Carlston & rosciolit for their mentorship NeuRA (Neuroscience Research Australia) Harvard Medical School ASHG

454,787 exomes analysed in the UK Biobank study, the largest catalogue of protein coding variation to date 🙌🏻 Joshua D Blackman Regeneron Genetics Center #ASHG21

Congratulations to the team! Thrilled to have been introduced to the seqr platform by Anne O'Donnell-Luria and enjoyed using this very intuitive platform, a variant curators wish list realised 🙌🏻 Broad Clinical Labs

Navigating the pitfalls of applying machine learning in genomics - Nature Reviews Genetics nature.com/articles/s4157…

Ultra rapid genome sequencing in 5 hours and 2 mins! What a collab!🏅

Today, I am delighted to share our review in Nature Medicine on AI in Health and Medicine. I am grateful to have worked with Eric Topol and co-first authors Emma Chen and Oishi Banerjee. nature.com/articles/s4159…

Excited about being a panellist today at NeuRA (Neuroscience Research Australia) Join us to hear about our science and our journeys! Hayley Leake Steve Kassem #NeuRA30

I'm going to start a thread of common writing tricks that you can (generally) use to help to reduce your word count in scientific writing. I'll add to the thread whenever I remember an example. #wordcountchop 1. "On the other hand" (4) ➡️ "Conversely" (1)

Thrilled to speak at the 30th celebrations at NeuRA (Neuroscience Research Australia) with fellow kiwi Dr Haeme Park. Great to see a foyer filled with the faces that have been so integral to my research. Here, with my supervisors, rosciolit and Peter Schofield AO 🧬🧠 #neurogenomics

Superb work by an awesome collab, thanks Prof Tiong Tan and team! Monoallelic variants in FBXW7 are associated with variable intellectual disability Victorian Clinical Genetics Services (VCGS) NeuRA (Neuroscience Research Australia) authors.elsevier.com/c/1etC8geX2WPM

Thrilled to present our work on ‘Methylation, Machine-learning and More Diagnoses: EpiSign in Australia’ at the Australian Society of Diagnostic Genomics 2022. NeuRA (Neuroscience Research Australia) London Health Sciences Centre @NSWHPathology Illumina rosciolit #genomics #AI

C01 #ESHG2022 Kerith-Rae Dias Garvan Institute of Medical Research Biallelic variants in GTF3C3 result in an autosomal recessive intellectual disability - missense variants are in repeated domains with low variability (below) - GTF3C3 involved in transcription and chromatin organization

NHMRC-funded study reveals 11 novel mutations in the ZMYND8 gene causing a new neurodevelopmental disorder with intellectual disability and cardiac malformations NHMRC Kerith-Rae Dias Lachlan De Hayr rosciolit Annette Schenck sciencedirect.com/science/articl…

NEW RESEARCH: published today in Genetics in Medicine, Kerith-Rae Dias & collaborators rosciolit, @profrjharvey, Annette Schenck have discovered 11 novel variants in the ZMYND8 gene that cause a new neurodevelopmental disorder w/ intellectual disability & cardiac malformations @NHMRC

Congratulations Lisa on the health economics of WGS in Mendelian disorders ! Well done! Exomes are good and cost-effective in the short term - genomes are better and cost effective in the long term. rdcu.be/cTFqL

An eye-opening presentation by Prof Glenda Halliday Brain & Mind Centre 2022 NSW Scientist of the Year, speaking on Neurodegenerative Disease and opening the NSW Science & Research Breakfast Seminar Series, hosted by the Office of the Chief Scientist & Engineer Fishburners 🐟🔥, Sydney

Incredible work happening The Westmead Institute for Medical Research led by Prof Ruby Lin Phage Australia - Connect. Discover. Cure. Excited to see the next phase for phage therapeutics in Australia! #phagegenomics