@scott-lab-gmp.bsky.social
Genetics and Molecular Pathology Lab. Genetics and Genomics. Diagnostics, translation and basic science!
Looking forward to a local installation! for South Australia!
🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬
github.com/populationge...
A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!
github.com/populationge...
A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necess...
www.medrxiv.org
May 23, 2025 at 10:35 AM
Looking forward to a local installation! for South Australia!
@dstroudlab.bsky.social @daniellahock.bsky.social ck.bsky.social @thorburnmito.bsky.social @ausgenomics.bsky.social Amazing work! How much has sensitivity improved in proteomics over the years!
May 23, 2025 at 5:40 AM
@dstroudlab.bsky.social @daniellahock.bsky.social ck.bsky.social @thorburnmito.bsky.social @ausgenomics.bsky.social Amazing work! How much has sensitivity improved in proteomics over the years!
A call to programming minded bioinformaticians or visa versa with a bent to do good deeds... ? Join us! Ethical data-sharing for patient benefit. @ausgenomics.bsky.social @zornitza.bsky.social Please amplify!https://www.seek.com.au/shariant-jobs?jobId=82245524&type=standard
March 4, 2025 at 10:11 AM
A call to programming minded bioinformaticians or visa versa with a bent to do good deeds... ? Join us! Ethical data-sharing for patient benefit. @ausgenomics.bsky.social @zornitza.bsky.social Please amplify!https://www.seek.com.au/shariant-jobs?jobId=82245524&type=standard
Happy to have had a chat about some of our recent work in inherited hematological diseases and pregnancy loss published as a CAHLN Research Pulse podcast. Team effort. @SAPathology @CCB_Research @UniversitySA @SAHealth www.buzzsprout.com/1982738/epis...
The technology revolution solving medical mysteries for families - Research Pulse: Future focussed health insights
CALHN Research Pulse podcast | Season 3 Episode 2 |Recent decades have seen an explosion in the techniques scientists use to study genes.In this episode of Research Pulse, we learn how knowledge about...
www.buzzsprout.com
December 23, 2024 at 5:46 AM
Happy to have had a chat about some of our recent work in inherited hematological diseases and pregnancy loss published as a CAHLN Research Pulse podcast. Team effort. @SAPathology @CCB_Research @UniversitySA @SAHealth www.buzzsprout.com/1982738/epis...
Great to be a part of this study for Australian and South Australian patients. Also great to be on this platform! Congrats to Megan Ball, @zornitza.bsky.social @ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social
📣 Out now in Genetics in Medicine:
Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺
👉 authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes 🏆
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺
👉 authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes 🏆
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
December 9, 2024 at 7:21 AM
Great to be a part of this study for Australian and South Australian patients. Also great to be on this platform! Congrats to Megan Ball, @zornitza.bsky.social @ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social
Its that time of year!
December 7, 2024 at 4:25 AM
Its that time of year!