@PanelAppAus

PanelApp Australia team here! Email: [email protected] or find us: https://xitter.cf/t.co/G4wT1BOCtO

Joined December 2019
  • Tweets214
  • Following43
  • Followers196
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👏 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/s41581-0…
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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/pane…
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PanelAppAus retweeted
Seb Lunke@GenomeSeb2 Jun 2024
Go @PanelAppAus! panelapp.agha.umccr.org/
A/Prof Danya Vears@DanyaVears2 Jun 2024
Great presentation by @ZornitzaS #eshg2024 on a new pipeline for automated reanalysis of undiagnosed cases.
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Can’t believe it’s been 10 years of @MelbGenomics variant interpretation workshops!!! Happy to be talking #genecuration @PanelAppAus @ClinGenResource one ?last time!
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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/s41598-0… @ZornitzaS @clairsullivan23 @TeamNicWaddell @digihealthcrc
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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
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Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu
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.@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! 👏🙏
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Fantastic to see full house again @MelbGenomics curation training workshop, talking #gene curation today @PanelAppAus @ClinGenResource
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A more dynamic approach is needed for re-analysis of genomic data #raregenetic #raredisease #GIMOpen bit.ly/3r94qLr
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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:
Genetics in Medicine@GIMJournal3 Jul 2023
A more dynamic approach is needed for re-analysis of genomic data #raregenetic #raredisease #GIMOpen bit.ly/3r94qLr
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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 🧵
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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 🧵
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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
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📣Out now @AJHGNews @AusGenomics: the first 5 years 🇦🇺🧬🇦🇺🧬 Amazing to see how far we've come, much more to do! authors.elsevier.com/a/1ggtb…
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Replying to @PanelAppAus
@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 👏
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🤔 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
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Fantastic turnout for the @MelbGenomics Advanced Variant Curation workshop! Looking forward to talking about #gene and panel curation @PanelAppAus 🧬
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👏👏👏 Many congratulations to #Shariant @AusGenomics @QIMRBerghofer @scott_lab_gmp @EmmaTudini paper featured in @AJHGNews today! Thank you for making variant sharing easy! >1,000 variants now in ClinVar from @TeamVCGS alone 🧬🌏🇦🇺 @GA4GH authors.elsevier.com/c/1g115…
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📣Check out our latest #AcuteCare @AusGenomics: co-design, national implementation and evaluation of plain language genomic reports! All templates online, now used by many projects 🇦🇺 👏@sophbouff @genetic_Fi @emmagenetics @KirniGC rdcu.be/cX6jg npj_Genomic Medicine
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