PanelAppAus

PanelApp Australia team here! Email: [email protected] or find us:

[Prof Zornitza Stark @ZornitzaS]

👏 out now @NatRevNeph from us @ClinGenResource Kidney CDWG!

@AndrewMallett8 @AliciaBByrne @RLWczyk @kidneyomicsamps

Gene-disease relationships in the #genomics era

https://t.co/hVzNO2zywV

👀 this space: outputs from our #expert groups coming soon!

https://t.co/XVYzkREnM8

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

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. https://t.co/IjKQkEQTpy

[Seb Lunke @GenomeSeb]

Go @PanelAppAus! https://t.co/6g4JLf4u6C

[Prof Zornitza Stark @ZornitzaS]

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

[alan alan alan @actually_alan]

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!

https://t.co/eufar8eNdh

@ZornitzaS @clairsullivan23 @TeamNicWaddell @digihealthcrc

[Prof Zornitza Stark @ZornitzaS]

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?

https://t.co/3muvHdPcvr

@GenomeSeb @drlildownie

[Genetics in Medicine @GIMJournal]

Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis https://t.co/EripjBwBzy

[Konrad Platzer @platzer_k]

.@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! 👏🙏

[Prof Zornitza Stark @ZornitzaS]

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

[Genetics in Medicine @GIMJournal]

A more dynamic approach is needed for re-analysis of genomic data #raregenetic #raredisease #GIMOpen https://t.co/dTzpxbCL2J

[alan alan alan @actually_alan]

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:

[Prof Zornitza Stark @ZornitzaS]

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
👉https://t.co/DXjrT5wh4l 🧵

[Prof Zornitza Stark @ZornitzaS]

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 🏥

https://t.co/B7dScpCR7a 🧵

[Prof Zornitza Stark @ZornitzaS]

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

[Prof Zornitza Stark @ZornitzaS]

📣Out now @AJHGNews

@AusGenomics: the first 5 years 🇦🇺🧬🇦🇺🧬

Amazing to see how far we've come, much more to do!

https://t.co/76jf7xvyp1

[Joanne Isbister-Smith @IsbisterJoanne]

@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 👏

[Prof Zornitza Stark @ZornitzaS]

🤔 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 👏

https://t.co/i6ctM9iSSC

[Prof Zornitza Stark @ZornitzaS]

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

[PanelAppAus @PanelAppAus]

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

[DiseaseGenes @DiseaseGenes]

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