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New Australian Genomics & @QIMRBerghofer study calls for national laboratory policies re the management of medically significant genetic variants unrelated to the initial reason for requesting a genomic test. 👉 bit.ly/3Xwmr1j JMG Emma Tudini @MatildaHaas Amanda Spurdle

Great news when the major product of a PhD gets into real print! Well done Aimee et al on showing that WGS can improve diagnosis of suspected hereditary cancer.. doi.org/10.1186/s13073… Genome Medicine

Li Fraumeni Syndrome = increased #cancer risk Now new #research led by our own Dr Cristina Fortuno & Amanda Spurdle with Prof Paul James from Peter Mac Cancer Centre could help detect & manage cancers earlier in people with the condition. Read more bit.ly/48Ban3u NHMRC NBCF Australia

📢New AJHG 📰Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease 🧑‍🤝‍🧑Rehan Villani Amanda Spurdle & colleagues cell.com/ajhg/abstract/…

So excited that this work has got out - a summer project that ended up being published - woo hoo!

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

well done cristina for leading yet another paper, and thanks to our collaborators who made it possible! European Journal of Human Genetics 10.1038/s41431-024-01705-9

First paper for 2025... pubmed.ncbi.nlm.nih.gov/39780207/ - and according to first author Cristina, results have already been used to inform a TP53 variant clinical classification... exciting! QIMR Berghofer

Well done to Nitsan for her first paper!! And now we are committed to using protein stability predictions in variant classification! sciencedirect.com/science/articl… QIMR Berghofer

Take a look at my article! nature.com/articles/s4152…