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

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.

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...

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!

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. …

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...

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...

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

🌟 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!

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

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.

🗣️ 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. 🤔

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

Release announcement from T2T consortium!

humanpangenome.org/hprc-data-re...

#ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬

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.

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!

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!

📣 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 👏