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
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
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
.@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! 👏🙏
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 🧵
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 🧵
@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 👏
https://t.co/i6ctM9iSSC