I'm pleased to share that our article is now published! Free to access and download at authors.elsevier.com/a/1gSC83vlFUye…

Timely and highly important presentation by Dr Dr Danya Vears from Murdoch Children's Research Institute (MCRI) on the ethics of implementing automation in genomic reanalysis at #hgsa2204 #ArtificialInteligence

Q: What's happening in automating reanalysis of #genomics in Australia? A: Lots! Prof Zornitza Stark updates #hgsa24 And there is more to come!

And now the dangers ‼️⚠️‼️of autoclassifying variants in #genomic newborn screening Seb Lunke Victorian Clinical Genetics Services (VCGS): early experiences from the BabyScreen+ study

More excellent work from Murdoch Children's Research Institute (MCRI) Daniella Hock #hgsa2024 Human Genetics Society of Australasia rapid proteomics to resolve VOUS. Can be done in hours using 1ml blood 👏👏👏

So excited that this is out! Thanks to all my fantastic collaborators! QIMR Berghofer Medical Research Institute ClinGen

Two weeks to go until the 2024 KidGen Kidney Genetics Symposium! BIG NEWS - Registration for VIRTUAL Attendance has now opened! 🎉🎉 trybooking.com/events/landing…

I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: rarediseasegenomics.org/blog/rnu4-2-th… Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!) If you have any RNU4-2 families, please do share!

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

📆 4 weeks until the #GA4GH12thPlenary takes place in Melbourne & the full program is now available! 📌 Connect Working Sessions: 16-17 Sept 📌 Welcome reception: 17 Sept 📌 12th Plenary Meeting: 18-19 Sept 📌 NIF: 20 Sept Learn more & register: bit.ly/12plenary

Every baby deserves access to genetic screening. Read @NatuMedicine editorial. nature.com/articles/s4159…

Welcome more leaders #ProCan Sydney Int Conf: - Prof Anna DeFazio-Poidevin, Precision Oncology in Ovarian Cancer - Prof Lois Holloway, Implementing Radiomics - A/Prof Ness Tyrrell, Improving outcomes with Multi-Omics - Prof Prof Zornitza Stark, Rare disease diagnosis procanconference.au/speakers

“ReNU syndrome” (pronounced ‘renew’) A name chosen by family groups for the syndrome associated with variants in RNU4-2. It symbolises the renewed hope for a brighter future for families on receiving this diagnosis. Disease / syndrome naming is hard : a short 🧵

Humbled for the 2024 WCHN Excellence Awards in the Research & Innovation Award. Thank you to Prof Chris Barnett, Dr Matilda Jackson, Dr Thuong Ha , Dr Theresa Power, and members of the Genomic Autopsy Study Australian Genomics SA Pathology Centre for Cancer Biology Alicia Byrne Peer Arts

At a moment of huge change and uncertainty for higher education Jan Royall is the perfect candidate for the job Of Chancellor of the Univeristy of Oxford. I’m thrilled to support her! Jan for Oxford Chancellor.

Registrations and abstract submissions for the 2024 AFGN Symposium are open! Join us on November 28 & 29 in Melbourne. 📢Abstract submissions close: Sept 13th 🎟️Early bird registration closes: Oct 25th Learn more: functionalgenomics.org.au/2024-symposium/ #RareDisease #FunctionalGenomics

📣 📣 📣 Our new paper out today in Genetics in Medicine on Genetic Counselling in rapid genomic testing Link 👉 gimopen.org/article/S2949-…

Fantastic work 👏👏👏 : many lessons learned from delivering National rapid #genomics program about how best to support families and staff #GCchat

A Reporting #Checklist for #DCEs in Health D I R E C T Checklist - with Jemimah Ride & Emily Lancsar link.springer.com/article/10.100…

Delighted to be shortlisted for this award, which reflects the wonderful work of our dedicated team, collaborators & the patients & families we are honored to work with. #genomics ExeterGenomes NIHR Exeter Biomedical Research Centre (BRC) KPTN Alliance Peter Crino Sarah Wynn Prof Zornitza Stark Reza Maroofian Professor Dame Sue Hill