PanelApp Australia team here! Email: panelapp@australiangenomics.org.au or find us: panelapp.agha.umccr.org.au
Joined December 2019
- Tweets 214
- Following 43
- Followers 197
- Likes 367
1 Photos and videos
PanelAppAus retweeted
23 Oct 2024
π out now @NatRevNeph from us @ClinGenResource Kidney CDWG!
@AndrewMallett8 @AliciaBByrne @RLWczyk @kidneyomicsamps
Gene-disease relationships in the #genomics era
rdcu.be/dXUt9
π this space: outputs from our #expert groups coming soon!
nature.com/articles/s41581-0β¦
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PanelAppAus retweeted
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/paneβ¦
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PanelAppAus retweeted
2 Jun 2024
2 Jun 2024
Great presentation by @ZornitzaS #eshg2024 on a new pipeline for automated reanalysis of undiagnosed cases.
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PanelAppAus retweeted
23 Apr 2024
Canβt believe itβs been 10 years of @MelbGenomics variant interpretation workshops!!! Happy to be talking #genecuration @PanelAppAus @ClinGenResource one ?last time!
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PanelAppAus retweeted
2 Apr 2024
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/s41598-0β¦
@ZornitzaS @clairsullivan23 @TeamNicWaddell @digihealthcrc
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PanelAppAus retweeted
23 Jan 2024
Which genes to include in #genomic newborn screening?π§¬πΆ
Our BabyScreen list of 605 genes out now @GIMJournal and @PanelAppAus π¦πΊ
Comparison with other gNBS studies: only 55 in common!
πTime to harmonise?
gimjournal.org/article/S1098β¦
@GenomeSeb @drlildownie
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PanelAppAus retweeted
30 Nov 2023
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 retweeted
24 Oct 2023
.@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! ππ
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PanelAppAus retweeted
17 Oct 2023
Fantastic to see full house again @MelbGenomics curation training workshop, talking #gene curation today @PanelAppAus @ClinGenResource
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PanelAppAus retweeted
3 Jul 2023
A more dynamic approach is needed for re-analysis of genomic data #raregenetic #raredisease #GIMOpen bit.ly/3r94qLr
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PanelAppAus retweeted
5 Jul 2023
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:
3 Jul 2023
A more dynamic approach is needed for re-analysis of genomic data #raregenetic #raredisease #GIMOpen bit.ly/3r94qLr
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PanelAppAus retweeted
29 Jun 2023
Are we ready for #genomic newborn screening?
πΆπ§¬π #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
π£Out now in @NatureRevGenet
πrdcu.be/dfF7u π§΅
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PanelAppAus retweeted
8 Jun 2023
Out now @NatureMedicine results of our #AcuteCare @AusGenomics study π¦πΊ Huge national effort:
290 critically ill πΆ
2.9 days to WGS result β±οΈ
RNAseq proteomics extra analysis π
π54% diagnosed, major impacts on care π₯
rdcu.be/dd4M6 π§΅
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PanelAppAus retweeted
4 May 2023
More terrific detective work π΅οΈββοΈπ§¬ 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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PanelAppAus retweeted
2 Mar 2023
π£Out now @AJHGNews
@AusGenomics: the first 5 years π¦πΊπ§¬π¦πΊπ§¬
Amazing to see how far we've come, much more to do!
authors.elsevier.com/a/1ggtbβ¦
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PanelAppAus retweeted
12 Dec 2022
@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 π
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PanelAppAus retweeted
29 Nov 2022
π€ 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 ππ§¬
Congrats @TeamVCGS @DavidFr87880457 @wall_meaghan @GenomeSeb π
rdcu.be/c0FwO
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PanelAppAus retweeted
15 Nov 2022
Fantastic turnout for the @MelbGenomics Advanced Variant Curation workshop! Looking forward to talking about #gene and panel curation @PanelAppAus π§¬
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8 Nov 2022
And thank you @DiseaseGenes! All the new genes you tweet are added to @PanelAppAus, ready for immediate diagnostic use π€π€π€
8 Nov 2022
RT @JamesFasham: Enourmous thanks to all people in the Genetics Twitter community who contribute to @DiseaseGenes
@platzer_k
@ZornitzaS
@tomaeusTo
@AllanBayat
If anyone else wants to contribute just add #MorbidGene to your tweets
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