GenomeSeb
#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.
- Reposted by GenomeSebThe 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 GenomeSebGenomic 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
- 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
- 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...
- Reposted by GenomeSebPretty 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...
- Reposted by GenomeSebWhat 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...
- 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...
- @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...
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- 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 GenomeSebToo 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.
- 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. 🤔
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- Reposted by GenomeSebGetting 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!
- Reposted by GenomeSebAnd 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!
