PanelAppAus

👏 out now @NatRevNeph from us @ClinGenResource Kidney CDWG! @AndrewMallett8 @AliciaBByrne @RLWczyk @kidneyomicsamps Gene-disease relationships in the #genomics era rdcu.be/dXUt9 👀 this space: outputs from our #expert groups coming soon! nature.com/articles/s4158…

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/

Go @PanelAppAus! panelapp.agha.umccr.org

Can’t believe it’s been 10 years of @MelbGenomics variant interpretation workshops!!! Happy to be talking #genecuration @PanelAppAus @ClinGenResource one ?last time!

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 @SciReports! nature.com/articles/s4159… @ZornitzaS @clairsullivan23 @TeamNicWaddell @digihealthcrc

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

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

.@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 @ZornitzaS & team! 👏🙏

Fantastic to see full house again @MelbGenomics curation training workshop, talking #gene curation today @PanelAppAus @ClinGenResource

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:

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

Out now @NatureMedicine results of our #AcuteCare @AusGenomics 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 🧵

More terrific detective work 🕵️‍♀️🧬 by @Mitochondriac_ @thorburn_mito @Zumbugg @thestroudlab helping find an answer for another #AcuteCare family: MRPL39 is a new #DiseaseGene @hmg_journal @DiseaseGenes

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

@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 @ZornitzaS for the A+ presentation 👏

🤔 are saliva or blood samples better for microarray? Our latest @ejhg_journal: we compare results from 270 children who had both: 20 extra diagnoses using saliva due to mosaic CNVs 🔍🧬 Congrats @TeamVCGS @DavidFr87880457 @wall_meaghan @GenomeSeb 👏 rdcu.be/c0FwO

Fantastic turnout for the @MelbGenomics Advanced Variant Curation workshop! Looking forward to talking about #gene and panel curation @PanelAppAus 🧬

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