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And thank you DiseaseGenes! All the new genes you tweet are added to PanelAppAus, ready for immediate diagnostic use 🤗🤗🤗

Fantastic turnout for the Melbourne Genomics Health Alliance Advanced Variant Curation workshop! Looking forward to talking about #gene and panel curation PanelAppAus 🧬

🤔 are saliva or blood samples better for microarray? Our latest European Journal of Human Genetics: we compare results from 270 children who had both: 20 extra diagnoses using saliva due to mosaic CNVs 🔍🧬 Congrats Victorian Clinical Genetics Services (VCGS) David Francis Meaghan Wall Seb Lunke 👏 rdcu.be/c0FwO

PanelAppAus truely highlights the benefits of collaboration. The platform allows crowdsourcing of contributions from many experts, which facilitates the timely identification of newly published evidence for gene-disease associations. Thanks Prof Zornitza Stark for the A+ presentation 👏

📣Out now AJHG Australian Genomics: the first 5 years 🇦🇺🧬🇦🇺🧬 Amazing to see how far we've come, much more to do! authors.elsevier.com/a/1ggtbgeX6KPp…

More terrific detective work 🕵️‍♀️🧬 by @Mitochondriac_ David R. Thorburn Sumudu Amarasekera 🧬 Stroud lab (account no longer in use) helping find an answer for another #AcuteCare family: MRPL39 is a new #DiseaseGene Human Molecular Genetics DiseaseGenes

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 🧵

Are we ready for #genomic newborn screening? 👶🧬🌏 #RareDisease As multiple large studies launch internationally, Richard Scott and I review the evidence and gaps that now need to be addressed to inform policy 📣Out now in Nature Reviews Genetics 👉rdcu.be/dfF7u 🧵

A more dynamic approach is needed for re-analysis of genomic data #raregenetic #raredisease #GIMOpen bit.ly/3r94qLr

I'd wanted to wait to promote the paper until the print version was available, but with a great headline like this, I couldn't help myself. A thread:

Fantastic to see full house again Melbourne Genomics Health Alliance curation training workshop, talking #gene curation today PanelAppAus ClinGen

.PanelAppAus has become one of my Go To resources while analyzing exomes/genomes. The speed w/ which they curate new gene disease associations is unmatched! A new #morbidgene is published & sometimes only a day later its curated on the website. Great work Prof Zornitza Stark & team! 👏🙏

Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu

Which genes to include in #genomic newborn screening?🧬👶 Our BabyScreen+ list of 605 genes out now Genetics in Medicine and PanelAppAus 🇦🇺 Comparison with other gNBS studies: only 55 in common! 🌐Time to harmonise? gimjournal.org/article/S1098-… Seb Lunke Lilian Downie

Our paper that examines how our understandings of the molecular components epilepsy evolve (and what this means for re-analysis) has just been published in Scientific Reports! nature.com/articles/s4159… Prof Zornitza Stark Clair Sullivan Medical Genomics Digital Health CRC

Can’t believe it’s been 10 years of Melbourne Genomics Health Alliance variant interpretation workshops!!! Happy to be talking #genecuration PanelAppAus ClinGen one ?last time!

We know Prof Zornitza Stark from PanelAppAus as it often seems she is live curating gene disease associations on conferences. Happy to hear her talking on automated reanalysis in rare disease now.

Go PanelAppAus! panelapp.agha.umccr.org

CRE Profs Morgan, Hildebrand, Amor and Dr Scerri together with Prof Stark (#VCGS) have released a #childhoodapraxiaofspeech #PanelApp for #genes that play a role in speech apraxia. PanelApp is a tool to share, view & evaluate #GenePanels. panelapp.agha.umccr.org/panels/4290/

👏 out now Nature Reviews Nephrology from us ClinGen Kidney CDWG! Prof Andrew Mallett Alicia Byrne Rachel Lennon Matt Sampson Gene-disease relationships in the #genomics era rdcu.be/dXUt9 👀 this space: outputs from our #expert groups coming soon! nature.com/articles/s4158…