GenomeSeb
@genomeseb.bsky.social
#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.
Reposted by GenomeSeb
The government can’t claim that medical research is a priority while failing to treat it as one. Nine in 10 leading researchers in Australia are missing out on government support for world‑class proposals, leaving exceptional talent uncertain about their future.
Most researchers miss out on innovation grants while medical fund sits on $25b
Nine in 10 Australian researchers had their “ideas grant” applications rejected last year, even as Australia’s medical investment fund sits on $5 billion more than it was designed to hold.
www.theage.com.au
January 3, 2026 at 11:32 PM
The government can’t claim that medical research is a priority while failing to treat it as one. Nine in 10 leading researchers in Australia are missing out on government support for world‑class proposals, leaving exceptional talent uncertain about their future.
Reposted by GenomeSeb
Genomic Newborn Screening: Commodity or Public Good? onlinelibrary.wiley.com/doi/10.5694/...
What's next for genomic NBS in Australia?
Commercial testing?
Publicly funded program?
Large scale research to build capacity, infrastructure and evidence?
We discuss the options & ethics ⚖️ @mja.com.au
What's next for genomic NBS in Australia?
Commercial testing?
Publicly funded program?
Large scale research to build capacity, infrastructure and evidence?
We discuss the options & ethics ⚖️ @mja.com.au
Genomic Newborn Screening: Commodity or Public Good?
Genomic newborn screening (gNBS) can screen for a broad range of genetic conditions, potentially enabling early treatment and improving health outcomes. However, it remains outside publicly funded pr...
onlinelibrary.wiley.com
January 15, 2026 at 6:25 AM
Genomic Newborn Screening: Commodity or Public Good? onlinelibrary.wiley.com/doi/10.5694/...
What's next for genomic NBS in Australia?
Commercial testing?
Publicly funded program?
Large scale research to build capacity, infrastructure and evidence?
We discuss the options & ethics ⚖️ @mja.com.au
What's next for genomic NBS in Australia?
Commercial testing?
Publicly funded program?
Large scale research to build capacity, infrastructure and evidence?
We discuss the options & ethics ⚖️ @mja.com.au
Reposted by GenomeSeb
🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬
👉 www.nature.com/articles/s41...
1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
👉 www.nature.com/articles/s41...
1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
October 9, 2025 at 8:03 PM
🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬
👉 www.nature.com/articles/s41...
1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
👉 www.nature.com/articles/s41...
1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
Proud to share our BabyScreen+ #gNBS study is now out in @naturemedicine.bsky.social: 1000 babies screened, results in <2wks, 16 high chance findings, incl. 2 with major impact on care. Big thanks to @zornitza.bsky.social and the study team!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study - Nature Medicine
The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of babies.
www.nature.com
October 9, 2025 at 8:56 PM
Proud to share our BabyScreen+ #gNBS study is now out in @naturemedicine.bsky.social: 1000 babies screened, results in <2wks, 16 high chance findings, incl. 2 with major impact on care. Big thanks to @zornitza.bsky.social and the study team!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by GenomeSeb
Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!
@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
May 28, 2025 at 7:37 AM
Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!
Reposted by GenomeSeb
What does the Australian public think about the value and implementation of genomic NBS? 🧬👶⚖️
@ajhgnews.bsky.social
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social
#raredisease #genomics #healtheconomics
www.sciencedirect.com/science/arti...
@ajhgnews.bsky.social
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social
#raredisease #genomics #healtheconomics
www.sciencedirect.com/science/arti...
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Integrating genomic sequencing into newborn screening (NBS) has transformative potential for the identification and management of genetic conditions. …
www.sciencedirect.com
May 28, 2025 at 5:12 PM
What does the Australian public think about the value and implementation of genomic NBS? 🧬👶⚖️
@ajhgnews.bsky.social
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social
#raredisease #genomics #healtheconomics
www.sciencedirect.com/science/arti...
@ajhgnews.bsky.social
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social
#raredisease #genomics #healtheconomics
www.sciencedirect.com/science/arti...
Already so many benefits, and this is only just the start for Talos!
May 26, 2025 at 3:42 PM
Already so many benefits, and this is only just the start for Talos!
@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
May 26, 2025 at 3:38 PM
@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
Reposted by GenomeSeb
Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism.
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics
May 26, 2025 at 9:27 AM
Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism.
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics
Reposted by GenomeSeb
🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2025 MatchMaking! Whether you're ready to take the next step in your career or seeking fresh talent, join us today at the #ESHG-Y booth 546 in Hall 4 at 12:00 hrs CEST. Let's connect and advance our careers in #genetics together!
May 26, 2025 at 9:45 AM
Thank you @ahoischen.bsky.social and Lot Snijders Blok for hosting the Poster lightalk session. It was indeed a lot of fun, and a lot of great work presented. #ESHG2025
May 26, 2025 at 9:49 AM
Thank you @ahoischen.bsky.social and Lot Snijders Blok for hosting the Poster lightalk session. It was indeed a lot of fun, and a lot of great work presented. #ESHG2025
Reposted by GenomeSeb
Too much great stuff on this morning #ESHG2025, on at sequencing square: lightening poster talks! @genomeseb.bsky.social now presenting results from the BabyScreen+ study
May 26, 2025 at 9:14 AM
Too much great stuff on this morning #ESHG2025, on at sequencing square: lightening poster talks! @genomeseb.bsky.social now presenting results from the BabyScreen+ study
Should be an exciting session this morning in Brown 3 #Eshg2025 discussing the latest in genomic newborn screening. Kicking off is the amazing @zornitza.bsky.social with an interactive hot topic session on what conditions to include.
May 26, 2025 at 6:39 AM
Should be an exciting session this morning in Brown 3 #Eshg2025 discussing the latest in genomic newborn screening. Kicking off is the amazing @zornitza.bsky.social with an interactive hot topic session on what conditions to include.
Reposted by GenomeSeb
🗣️ Quote of #ESHG2025 (so far)
"Who licks bone !?!" 🦴
- Johannes Krause
Anyone have that on your bingo card?
Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔
"Who licks bone !?!" 🦴
- Johannes Krause
Anyone have that on your bingo card?
Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔
May 24, 2025 at 1:46 PM
🗣️ Quote of #ESHG2025 (so far)
"Who licks bone !?!" 🦴
- Johannes Krause
Anyone have that on your bingo card?
Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔
"Who licks bone !?!" 🦴
- Johannes Krause
Anyone have that on your bingo card?
Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔
Reposted by GenomeSeb
Steve McCarroll plenary. Amazing to go back to Huntington's disease, and learn there is nothing toxic about inherited CAG expansion, its their random somatic expansion over a relatively short period of time. Explains a lot about later onset of condition. #ESHG2025
May 24, 2025 at 1:28 PM
Steve McCarroll plenary. Amazing to go back to Huntington's disease, and learn there is nothing toxic about inherited CAG expansion, its their random somatic expansion over a relatively short period of time. Explains a lot about later onset of condition. #ESHG2025
Reposted by GenomeSeb
Release announcement from T2T consortium!
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
HPRC Data Release 2
HPRC Data Release 2
humanpangenome.org
May 24, 2025 at 12:49 PM
Release announcement from T2T consortium!
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
humanpangenome.org/hprc-data-re...
#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬
Reposted by GenomeSeb
Attend the ELPAG Award lecture at 14:15 at #eshg2025 with Sylvia Metcalfe who played a leading role in setting up the Genioz project and find out about her research that led to the ELPAG Award.
May 24, 2025 at 11:45 AM
Attend the ELPAG Award lecture at 14:15 at #eshg2025 with Sylvia Metcalfe who played a leading role in setting up the Genioz project and find out about her research that led to the ELPAG Award.
Reposted by GenomeSeb
Getting ready for #eshg2025 …and our postdoc @lydiasagath.bsky.social made a nice BINGO card again.
Paying a lot of attention to the entire event will pay off!
Paying a lot of attention to the entire event will pay off!
May 23, 2025 at 4:26 PM
Getting ready for #eshg2025 …and our postdoc @lydiasagath.bsky.social made a nice BINGO card again.
Paying a lot of attention to the entire event will pay off!
Paying a lot of attention to the entire event will pay off!
Reposted by GenomeSeb
And we’re off #ESHG2025! Now on implementing #genomics at scale: Lil Downie talking about our experience of using digital decision support on genomic NBS @genomeseb.bsky.social @yvonnebombard.bsky.social
May 24, 2025 at 8:35 AM
And we’re off #ESHG2025! Now on implementing #genomics at scale: Lil Downie talking about our experience of using digital decision support on genomic NBS @genomeseb.bsky.social @yvonnebombard.bsky.social
This is great work showing how regular automated re-analysis of genomic data for negative cases yields new diagnosis in a scalable way. No AI required!
🤗 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 6:34 AM
This is great work showing how regular automated re-analysis of genomic data for negative cases yields new diagnosis in a scalable way. No AI required!
Reposted by GenomeSeb
📣 Out now in #HumanGenomics!
🤔 What do the public think about the use of AI in #genomic medicine?
👉 rdcu.be/d0PLP
Benefits: efficiency ⬆️ errors ⬇️
Concerns: data security 🔐 discrimination
Who would be liable for error? 🤖👩⚕️
@genetic-fi.bsky.social Danya Vears & Jack Harrison 👏
🤔 What do the public think about the use of AI in #genomic medicine?
👉 rdcu.be/d0PLP
Benefits: efficiency ⬆️ errors ⬇️
Concerns: data security 🔐 discrimination
Who would be liable for error? 🤖👩⚕️
@genetic-fi.bsky.social Danya Vears & Jack Harrison 👏
Analysis of public perceptions on the use of artificial intelligence in genomic medicine | Human Genomics
rdcu.be
November 20, 2024 at 6:49 AM
📣 Out now in #HumanGenomics!
🤔 What do the public think about the use of AI in #genomic medicine?
👉 rdcu.be/d0PLP
Benefits: efficiency ⬆️ errors ⬇️
Concerns: data security 🔐 discrimination
Who would be liable for error? 🤖👩⚕️
@genetic-fi.bsky.social Danya Vears & Jack Harrison 👏
🤔 What do the public think about the use of AI in #genomic medicine?
👉 rdcu.be/d0PLP
Benefits: efficiency ⬆️ errors ⬇️
Concerns: data security 🔐 discrimination
Who would be liable for error? 🤖👩⚕️
@genetic-fi.bsky.social Danya Vears & Jack Harrison 👏