And thank you @eshg.bsky.social for giving us the opportunity to present Talos at the ESHG conference first 🙌

📣 Out now @naturemedicine.bsky.social 🧬🤖 👉 rdcu.be/fqasl Our automated reanalysis tool Talos enables broad adoption and delivers timely + equitable #raredisease #diagnosis at scale! ♻️ Runs monthly on >10K datasets 🎯High specificity 💰Low running costs 🤗Open source @dgmacarthur.bsky.social

What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...

Thank you @eshg.bsky.social #eshg2026 for another fabulous conference!! 🇸🇪🧬

🚨Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshg.bsky.social 🔹What should we screen for and report? 🔹What about uncertainty and harms? 🔹How can we deliver equitably and at scale? #Genomics #Screening #NewbornScreening 🔗 www.nature.com/collections/...

Guillaume Canaud, Mendel Lecturer at #eshg2026! Professor Canaud is internationally recognised for his pioneering research into the molecular mechanisms of rare vascular disorders and for translating genetic discoveries into targeted therapies that are transforming patient care #Genetics #Genomics

Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏

Another great #genomic NBS workshop today at #eshg2026 @eshg.bsky.social Fantastic to see the focus shift towards HOW we do this! So much we need to scale up: public and professional engagement, infrastructure, workforce! While ensuring sustainability and equity 🧬👶🚀

🧬 Suzi Walker, Genomics England Can RNAseq help solve more rare disease cases? RNAseq from 7,841 participants in the 100kgp Abberant splicing confirmed in >50% of known case - limited by expression in blood Also new candidate variants identified #ESHG2026

A Tucci: Prevalence of repeat expansion disorders. - Mutation freq ≠ disease freq: disease prevalence model using carrier freq - Pathogenic repeat expansions more freq in genomic databases than expected from clinical prevalence - Two main factors: under ascertainment+incomplete penetrance #eshg2026

Wendy Chung (Columbia) GUARDIAN Study approach to genomic newborn screening Focus on childhood-onset conditions - high penetrance - effective interventions - clear evidence base 👀 high uptake >92% of optional additional testing in conditions where above less clear #ESHG2026

👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social 3,171 abstracts from 95 countries: 🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al 👥6,048 participants: 🙋‍♂️🙋‍♀️4,812 in person 💻 🖥️1,248 online ⛅️ Fascinating word cloud from all presentation titles 🇸🇪 It’s good to be in Gothenburg! #RareDisease #Genomics

👏👏👏 fantastic to see @nickywhiffin.bsky.social win the Leena Peltonen award at #eshg2026 @eshg.bsky.social 👏👏👏

This study is now being presented at #eshg2026

To all attending #eshg2026: if you are ready to spent extra attention to detail throughout the entire conference, I recommend the informal ESHG bingo card. Brought by our great postdoc @lydiasagath.bsky.social @eshg.bsky.social First bingo gets a kanelbullar from me… tinyurl.com/eshgbingo2026

Is your BlueSky a bit light on genetics content... Add these accounts 👇

Really excited to be in Gothenburg 🇸🇪 for #eshg2026 looking forward to great science and to catching up with many friends and colleagues @eshg.bsky.social 🧬

Welcome to the ESHG 2026 – #hybridconference! Join the conversation by using #eshg2026. With this hashtag you will also find the latest updates. See you at 8:30 CEST for the first sessions of today!

Open science, altruism and impact: An interview with clinical geneticist @zornitza.bsky.social Read the interview here: go.nature.com/4aJsp7B

🥳 Another great collaboration! New MOI for an established gene @diseasegenes.bsky.social these are always trickier to spot!

Australia is leaving money put aside for medical research funding in the bank while our brightest minds head overseas and young researchers question their future in medical research.

Check out the third in a blog series focused on researchers’ experiences with open science practices: Open science, altruism and impact: An interview with clinical geneticist Zornitza Stark go.nature.com/42DMsQt Thank you, @zornitza.bsky.social! 🙏

‘Medical research isn't just good for our health, it's also great for our economy.’ In this Budget, the govt has to commit to spending money put aside for that purpose in the Medical Research Future Fund. Before we lose more brilliant minds overseas, before we damage the sector irrevocably.

Proud to share this latest publication by our PhD student Dr Megan Ball on mainstreaming genomic testing for #mito disease in Australia. Pleasure collaborate with @zornitza.bsky.social @thorburnmito.bsky.social and John Christodoulou supporting Megan in her studies. www.nature.com/articles/s41...

An impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟

Fantastic opportunity and a brilliant team 🤩!

Terrific to see this out! 10 years of variant interpretation courses delivered to >1000 participants 👏👏👏 And of course thoroughly evaluated 😁🇦🇺

📣New from Nisselle & co! 📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education

Adding genomic testing to newborn screening programs can expand them to cover hundreds of conditions and is getting closer to reality, with multiple pilot studies internationally publishing early results. Read more: buff.ly/7Of91pS

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

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.

Reading “The 5 stages of the ‘enshittification’ of academic publishing” theconversation.com/the-5-stages...

📣 New from Anderson et al! 📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

How can we measure the value of #genomics in #healthcare? How can #HTA, #implementation & data management be adapted to suit the rapidly evolving nature of genomics? For insights, read the Review from Zornitza Stark, Ilias Goranitis & colleagues. https://www.nature.com/articles/s41591-025-04061-3

Does #genomics work? How do we know? Really thoughtful piece full of insights and proposals, highlighting the many positives - and some negatives - that need to be included in models of appraisal. At least one thing is clear: We the need to take the long view.

Determining the value of genomics in healthcare” is now published in Nature Medicine. Led by A/Prof Ilias Goranitis, the paper brings together international co-authors to examine how the value of genomics can be assessed. Read the full article: www.nature.com/articles/s41...

In this Nature Medicine paper, we draw from our experiences in evaluating and implementing #genomics in Australia, Canada, England, Hong Kong and the US www.nature.com/articles/s41...

www.nature.com/articles/s41... 🔥🔥🔥 Is genomics value for money??? 🧬💰 👉 How do we define it? 👉 Measure it? 👉 And deliver it? rdcu.be/eR243 @iliasgoranitis.bsky.social @stephaniebest.bsky.social @hadleyssmith.bsky.social @rich-genomics.bsky.social @jbuchanan-ox.bsky.social @rdexeter.bsky.social

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