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Congrats Ingrid Tarr + Eleni Giannoulatou who led new #SCAD study JAMA Cardiology from Victor Chang Cardiac Research Institute. Findings? Common genetic variants play a key role & can explain #SCAD in some families. ja.ma/3u4xxRI SCAD Research Aus SCAD Alliance SCAD Research Inc. FMDSA

What can you expect to find at #PathUpdate2024? ❇️ Our largest cohort of speakers ever ❇️ 4 plenary talks discussing developments in #healthcare ❇️ 48 exhibitors at our industry exhibition Early bird registration closes on Thursday 1 Feb 2024. rcpa.me/PathologyUpdate

Early bird registration for #PathUpdate2024 closes today! Don't miss out, register now: rcpa.me/PathologyUpdate #AnswersInAdelaide #Pathology #PathTwitter #MedTwitter

PSA, since I've now seen problems arising from this: As of Sept 2023, GATK no longer makes missing genotypes explicit in VCFs (i.e. "./." as in the VCF spec). Missing genotypes are instead coded as "0/0" with a DP=0 format field. See attached for examples.

Let me tell you a story about 2 patients we identified via a research study, both with a rare variant in the cardiac troponin T gene, TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry /1

Prof Julie McGaughran Julie McGaughran giving an update of the Australian Genomics Cardiac MEGA flagship study. #PathUpdate2024 The Royal College of Pathologists of Australasia

#NUFC and sela | صلة have created a first in football, delivering a spectacular experience for deaf fans helping them to feel the atmosphere of a live football match. The "Unsilence The Crowd” campaign follows the journey of lifelong fans, Ryan and David, as they feel the passion of

Not too late to register & join cardiac genetic all stars in Brisbane at Int Clinical Cardiovascular Genomics Conference, May 6-8. Not only does our conference party dance floor GO OFF, but we have some brilliant international & national speakers! #iccg24 iccgconference.com

Dr Lim from our Centre for Cardiovascular Research has received a NSW CVRN Professional Development Award to attend the International Clinical Cardiovascular Genetics Conference 2024. Dr Lim will be presenting her research using iPSC-cardiomyocytes to model genetic heart disease.

Here are the full 7 questions to evaluate if a team has psychological safety bigonsmall.biz/posts/55965/as…

Initial findings of 600 participants enrolled in the Australian Genomics Cardiovascular Disorders Flagship demo a model of care that harnesses clinical genomic sequencing and research resolution bit.ly/3wthLRx #GIMO #GenomeSequencing #AustralianGenomics

Fabulous oral prize presentation by Yuchen YuChen.Chang at #iccg2024 describing tiered analysis of Australian Genomics cardiovascular genomes.

Fabulous talk by our labs bioinformatician YuChen.Chang on tiered analysis of Cardiovascular genetics disease in Australia #teamcardio #ICCG2024

Type 1 Brugada Pattern May Be Provoked by Ajmaline in Some Healthy Subjects: Results From a Clinical Trial ⁦bode⁩ ⁦Sanjay Sharma⁩ ⁦Prof Michael Papadakis⁩ ⁦Chiara Scrocco⁩ ⁦@MTome⁩ ⁦British Heart Foundation⁩ ⁦CRY⁩ ahajournals.org/doi/10.1161/CI…

In 2019, our hypertrophic cardiomyopathy gene curation showed 2/3 of "HCM" genes had ltd/no evidence, with 8 sarcomere genes being key We are excited to share the ClinGen HCM re-appraisal > with 29 genes to be included! medrxiv.org/content/10.110…

#WorldHeartDay is observed on 29th September. Around 30,000 Australians die every year from sudden cardiac death. This video shows cardiomyocytes beating in a wave, part of the research being performed in our Centre for Cardiovascular Research to find a cure for heart diseases.

I must thank all of the students, colleagues and collaborators with whom I have worked with over the years that made this possible.

Ahead of @nufc appearing in the Carabao Cup final, we surprised fans on Thursday night with a spectacular projection on Millbank Tower that saw #NUFC players tower over London. #SpectacularEveryday #Sela #NUFC

WE HAVE DONE IT!!!!!!!!!!!

To my genetics/genomics friends in Australia: the OurDNA Symposium will be in Sydney on 14 August, just before Human Genetics Society of Australasia. Learn more about inclusive recruitment for genomics and get a preview of the OurDNA variant browser! events.humanitix.com/ourdna-symposi…