New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬 A big step for precision medicine! www.nature.com/articles/s41...

Terrific to finally see this out @natgenet.nature.com, what a great collaboration to have been part of, massive congrats @noalipstein.bsky.social and team 👏👏👏

Awesome work by @zornitza.bsky.social and collaborators showing the immediate value of WGS for newborn screening in a cohort of 1,000 Australian babies. Now we need larger, more diverse cohorts to show this approach can achieve population scale!

A study on genomic newborn screening found 1.6% of 1,000 infants had a high chance of a treatable genetic condition, only one of which was caught by standard screening. The model proved feasible, scalable, and highly acceptable to parents. 🧬💻 #MedSky

🤗 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

🔔 Final chance! Take our global survey on building #healtheconomics capacity in #genomicmedicine. Takes approx. 15 mins. Open to everyone working in genomic medicine. Deadline: End of August. q.surveys.unimelb.edu.au/jfe/form/SV_...

The UK Govt just released its 10 year plan for the NHS and it is legitimately ambitious and exciting. Genomic population health features heavily... on the cover even! assets.publishing.service.gov.uk/media/686638...

After a decade of collaboration and innovation, #AustralianGenomics has come to an end. A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.

New paper by Mackley & co presents a framework to support genetic testing mainstreaming across specialities, with 4 models differentiated by when service delivery shifts to clinical genetic services. 🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465

Just published! ACMG SF v3.3 list for reporting of secondary findings in clinical #exome and #genome #sequencing. This 2025 update adds 3 genes - ABCD1, CYP27A1, and PLN - to the recommended minimum gene list with a description of the factors considered. #genetics bit.ly/40jQv3C

Hey Australian genetics/genomics friends: the OurDNA Symposium will be in Sydney on 14 August, just before the HGSA meeting. Learn more about inclusive recruitment for genomics and get a preview of the OurDNA variant browser! events.humanitix.com/ourdna-sympo...

Had a blast in Newcastle Uoon Tyne at #EIE25 learning and talking all things #implementation_science. Thrilled to have been awarded. the best poster. @stephaniebest.bsky.social @zornitza.bsky.social and Marlena Klaic

JCI - Another Fanconi anemia gene joins the club www.jci.org/articles/vie... Another one for you @diseasegenes.bsky.social! #morbidgene

Recently our team conducted two #DCEs as part of the BabyScreen+ program to elicit the Australian public’s preferences, values, and priorities for genomic newborn screening (gNBS) and its implementation. Read more here: sciencedirect.com/science/arti...

Wonderful to see our paper on the #Value and #Implementation of #Genomic_Newborn_Screening published in @ajhgnews.bsky.social #BabyScreen+ #HealthEconomics #DCE

📣New today! 📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia 🧑‍🤝‍🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co

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...

Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺

Missed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!

🤗🤗🤗🇦🇺🇦🇺🇦🇺 And absolutely thrilled to see @dgmacarthur.bsky.social deliver the @eshg.bsky.social Award Lecture #ESHG2025!!! 🇦🇺🇦🇺🇦🇺 So incredibly well deserved!!!

#ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social

Kym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better

Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell @DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy

#ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease

Now on in Gold: @jbuchanan-ox.bsky.social and one of my favourite topics #ESHG2025 — measuring the economic value of #genomics

@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 Stark @zornitza.bsky.social #ESGH2025 🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data) focus on specificity - only 0.7 candidates /trio Diagnostic yield is 5%, 248/4,744 - higher in older cases 9% 2019 4% 2022

#ESHG2025: has social media broken scientific knowledge sharing? Come and join us at Sequencing Square at 1415! @jamesfasham.bsky.social @psychgenomics.bsky.social @ritabmatos.bsky.social

Dr Dani Hock from @dstroudlab.bsky.social presenting on #RDMassSpec in diagnosis of #raredisease in the Multiomics session #ESHG2025

Looking for a workshop at 14:15? #ESHG2025 Since you're currently reading this, how about... "Has social media broken scientific knowledge sharing?" - subject experts, lively debate, audience engagement 📍 Sequencing Square (↗️ turn right as you enter exhhibitor hall)

Legged it over to Space 3 #ESHG2025 for the late breaking abstract session and a sense of deja vu from Berlin #ESHG2024 with @nickywhiffin.bsky.social presenting more beautiful RNU4-2 work!

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.

@zornitza.bsky.social opening a well-attended Newborn Screening session with a talk on choosing conditions Subjectivity in application of widely agreed inclusion criteria leads to small overlap (55 genes) pubmed.ncbi.nlm.nih.gov/38275146/

🗣️ 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 bones found in excavation sites? Archaeologists! To test if it's a bone or a stone. Johannes Krause at #eshg2025 on tackling modern human DNA contamination of samples from archaeological sites.

Can we make a hashtag for #SciandGelato #ESHG2025? Gelato on me if you have a count for the number of times @ahoischen.bsky.social mentioned gelato in his talk.

Next up in Gold: @khmiga.bsky.social it’s time to modernize the reference genome! #ESHG2025

Absolutely delighted to see Sylvia Metcalfe give the ELPAG lecture this year #ESHG2025 🇦🇺🇦🇺🇦🇺

Now on in Gold #ESHG2025 Yuyang Chen @nickywhiffin.bsky.social and using Ribo-Seq to identify small ORFs important in #raredisease 🔍🧬 multiple new diagnoses found, due to both novel and recurrent variants

C01.03 Bart van der Sanden De novo mutations in 100 undiagnosed NDD trios @PacBio (COI) HiFi genomes Per sample de Novo estimates (pic) agree with doi.org/10.1038/s415... 6 LP/P new diagnosis, 10 possible (9SVs) Phasing ✅ Parent of origin ✅ methylation ✅ #WGS #ESHG2025

Camila Simoes: Program for rare diseases in Uruguay. - Admixture in general population affects diagnostic yield - Building reference data is key #ESHG2025

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

🤗 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!

Absolutely stellar work by @dstroudlab.bsky.social @daniellahock.bsky.social @thorburnmito.bsky.social and team ⭐️⭐️⭐️👏👏👏 Ultra-rapid proteomics for #raredisease diagnosis!!!

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

We're starting the 2nd day of Genomics of Rare Disease #GRD25 learning more about What's New with Rare Disease? First speaker of the session is @zornitza.bsky.social talking about Scalable automated reanalysis in #RareDiseases Are we there yet?

As @ausgenomics.bsky.social comes to an end: what have we learned? 🇦🇺🧬 @naturemedicine.bsky.social 👉 rdcu.be/eeuAN Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆 @stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social

We've looked back on the many many @ausgenomics.bsky.social #impsci projects to identify what will be useful for future implementation of #genomics. Leadership, collaborative networks and a wide geographical reach are all critical. Read more at the link below.

As @ausgenomics.bsky.social comes to an end: what have we learned? 🇦🇺🧬 @naturemedicine.bsky.social 👉 rdcu.be/eeuAN Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆 @stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social