PanelAppAus (@panelappaus) 's Twitter Profile
PanelAppAus

@panelappaus

PanelApp Australia team here! Email: [email protected] or find us: panelapp.agha.umccr.org.au

ID: 1203924880388808705

calendar_today09-12-2019 06:31:01

221 Tweet

206 Followers

44 Following

Prof Zornitza Stark (@zornitzas) 's Twitter Profile Photo

🤔 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

Joanne Isbister-Smith (@isbisterjoanne) 's Twitter Profile Photo

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 👏

<a href="/PanelAppAus/">PanelAppAus</a> 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 <a href="/ZornitzaS/">Prof Zornitza Stark</a> for the A+ presentation 👏
Prof Zornitza Stark (@zornitzas) 's Twitter Profile Photo

📣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…

📣Out now <a href="/AJHGNews/">AJHG</a>

<a href="/AusGenomics/">Australian Genomics</a>: the first 5 years 🇦🇺🧬🇦🇺🧬

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

authors.elsevier.com/a/1ggtbgeX6KPp…
Prof Zornitza Stark (@zornitzas) 's Twitter Profile Photo

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 🧵

Out now <a href="/NatureMedicine/">Nature Medicine</a> results of our #AcuteCare <a href="/AusGenomics/">Australian Genomics</a> 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 🧵
Prof Zornitza Stark (@zornitzas) 's Twitter Profile Photo

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 🧵

Are we ready for #genomic newborn screening?
👶🧬🌏 #RareDisease 

As multiple large studies launch internationally, <a href="/Rich_Genomics/">Richard Scott</a> and I review the evidence and gaps that now need to be addressed to inform policy

📣Out now in <a href="/NatureRevGenet/">Nature Reviews Genetics</a> 
👉rdcu.be/dfF7u 🧵
alan alan alan (@actually_alan) 's Twitter Profile Photo

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:

Konrad Platzer (@platzer_k) 's Twitter Profile Photo

.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! 👏🙏

Genetics in Medicine (@gimjournal) 's Twitter Profile Photo

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

Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu
Prof Zornitza Stark (@zornitzas) 's Twitter Profile Photo

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

Which genes to include in #genomic newborn screening?🧬👶

Our BabyScreen+ list of 605 genes out now <a href="/GIMJournal/">Genetics in Medicine</a> and <a href="/PanelAppAus/">PanelAppAus</a> 🇦🇺

Comparison with other gNBS studies: only 55 in common!

🌐Time to harmonise? 

gimjournal.org/article/S1098-…

<a href="/GenomeSeb/">Seb Lunke</a> <a href="/drlildownie/">Lilian Downie</a>
alan alan alan (@actually_alan) 's Twitter Profile Photo

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

Junge Humangenetik (@juhumgen) 's Twitter Profile Photo

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.

MCRI - Translational Centre for Speech Disorders (@mcri_speechlang) 's Twitter Profile Photo

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/

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 &amp; evaluate #GenePanels. panelapp.agha.umccr.org/panels/4290/
Prof Zornitza Stark (@zornitzas) 's Twitter Profile Photo

👏 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…