Featured in The Scientist: Dr. Alexander Hoischen discusses how long-read sequencing on the Revio system is helping end the rare disease diagnostic odyssey by filling the gaps left by short reads. Read the interview: bit.ly/4i3LKFl #PacBio #Revio #RareDisease #HiFiSequencing

📢 Welcome to this month's #EJHG #JournalClub! We're discussing: "Transcription-based identification of uncharacterized genes in the human immune response" from our July issue. 🧬 @ahoischen.bsky.social @emilvorsteveld.bsky.social 🔗 Read the full text: www.nature.com/articles/s41...

For the past 30 years, “whole-genome sequencing” has been a misnomer. Today the T2T Consortium publishes a dozen papers heralding a future of truly complete genomes for humans and nearly any vertebrate 👨‍🔬🐒🐦🐀🦒🐎🫏🐹🐟 (sorry, no salamanders): www.cell.com/consortium/t... 🧵[1/15]

Shout out to the @gnomad-project.bsky.social crew - finally Dutch beer brewers listened to your word puns - proudly present l‘oeuf…

A new Nature Genetics piece from @radboudumc.bsky.social outlines Near-Perfect Genome Sequencing (NPGS): a framework combining long-reads, diploid assembly, pangenomes, and AI to shift from fragmented testing to a single comprehensive genomic assay. Read more here: go.nature.com/4ey5YF0 #PacBio

Near-perfect genome sequencing in medical genetics - Nature Genetics

This Perspective introduces near-perfect genome sequencing, which encompasses diploid genome assembly, pangenome references and artificial intelligence-driven variant interpretation, and proposes a ro...

go.nature.com

Excited to share our ‘perspective’ on significant impact long-read sequencing technologies, genome assemblies and better (AI-assisted) interpretation-tools will bring to our field of medical genetics – as we are entering an era of “near-perfect genome sequencing”. www.nature.com/articles/s41...

Near-perfect genome sequencing in medical genetics - Nature Genetics

This Perspective introduces near-perfect genome sequencing, which encompasses diploid genome assembly, pangenome references and artificial intelligence-driven variant interpretation, and proposes a ro...

nature.com

@ajhgnews.bsky.social latest article from @ahoischen.bsky.social, @bartvds.bsky.social, & co shows that long-read HiFi genome sequencing w/ Paraphase enables comprehensive analysis of challenging paralogous regions, detecting all clinically relevant variant types: https://bit.ly/4v0TdZq #ASHG

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haploty...

bit.ly

In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing. Full study results: https://nej.md/4e03ejh #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

ESHG 2026 BINGO

Play virtual ESHG 2026 BINGO with your friends for free on any device. Customize the bingo cards and generate printable or virtual bingo cards for free.

tinyurl.com

The #eshg2026 starts tomorrow morning. You can still register until June 16 for in-person participation. Enjoy all sessions live in Gothenburg, online from wherever you are or on-demand after the conference, whenever it suits you. 2026.eshg.org/registration/ #genetics #genomics

On my way to #eshg2026 @eshg.bsky.social Looking forward meeting many friends, colleagues & collaborators. We’ll have a fantastic program & the usual great ESHG vibe. Particularly proud of all young scientists, diagnostic experts and clinicians from @radboudumc.bsky.social that will present.

📱 The #ESHG2026 App is now available for iOS & Android! Browse sessions, posters, abstracts & maps, build your personal schedule, vote & ask questions during sessions, and stay updated throughout the Congress. 👉 2026.eshg.org/myconference... #ESHG2026 #Genetics #Genomics #HumanGenetics

We are happy to share the ESHG Strategic Roadmap built with the Executive Board, Board Members and Committee Chairs. Our vision for advancing human genetics and genomic medicine is built on four pillars: Collaboration, Policy, Education and Outreach. www.eshg.org/about-the-es...

Congrats to all co-authors from out HiFi-Solves EMEA consortium! www.pacb.com/hifi-solves/ This study was driven particularly by the great @bartvds.bsky.social; with important contributions from Hanno Jörn Bolz Johannes Zschocke Malte Spielmann and their teams.

The American Journal of Human Genetics@ajhgnews.bsky.social · 3mo ago

🧬New from @ahoischen.bsky.social & co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

🧬New from @ahoischen.bsky.social & co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haploty...

cell.com

🌍 Join from anywhere in the world with our online-only registration options 💻 Live-streamed sessions, on-demand access for 6 months 💡 reduced fees for students, trainees, participants from lower-income economies, etc. Register now: 2026.eshg.org/registration/

Already registered for #ESHG2026? Extend your experience with a pre-conference course on 12 June in Gothenburg! 🧬 Teach the Teacher Genetics 🧬 Large-Scale Genomic Public Databases Limited spots available — register now: 2026.eshg.org/satellite-me...

Are you ready for #ESHG2026 in Gothenburg? 🌊 A vibrant coastal city where nature meets urban life. Don’t miss out—register now and explore all it has to offer! 2026.eshg.org/registration/ Photo credits: Bilderboken (Unsplash), Hans Ott (Unsplash), Philip Myrtorp (Unsplash)

⏳ 1 week to go! Submit your work for the #ESHG2026 Breaking Abstracts session on June 15, 10:30–12:00 CEST and share your latest research. 📅 Submission Deadline: April 28, 2026 (23:59 CEST) – no extension! 🔗 Learn more & submit: 2026.eshg.org/abstracts/br...

Only 1 week left to register at a reduced rate for #eshg2026 The conference will take place physically in Gothenburg, Sweden but will be completely live streamed through our virtual conference platform. Early fee deadline: April 16, 2026 at 23:59 CEST. Register today: 2026.eshg.org/registration/

Great opportunity to learn from ESHG experts and great teachers (including the wonderful Bregje van Bon and @julianamiranda.bsky.social and many colleagues)! Highly recommended (building in very successful set of workshops last year)!

European Society of Human Genetics@eshg.bsky.social · 5mo ago

A few spots left for our pre-conference courses in Gothenburg (June 12, Svenska Mässan): 🔹 Teach the Teacher Genetics 🔹 Unleashing the Power of Large-Scale Genomic Public Databases A separate registration is required. Register now: 2026.eshg.org/satellite-me... #Genetics #Genomics #eshg2026

A few spots left for our pre-conference courses in Gothenburg (June 12, Svenska Mässan): 🔹 Teach the Teacher Genetics 🔹 Unleashing the Power of Large-Scale Genomic Public Databases A separate registration is required. Register now: 2026.eshg.org/satellite-me... #Genetics #Genomics #eshg2026

Hello from Gothenburg! 🇸🇪 The ESHG team is at the last Site visit in Gothenburg to go through all the details for the conference #eshg2026. Looking forward to seeing you there! Register and join us on-site in June: 2026.eshg.org/registration/

Don’t miss today’s ESHG webinar! Please check your inbox for the session link 📩

ESHG-Young@eshgyoung.bsky.social · 6mo ago

Don't miss the next ESHG Webinar on 25 March 2026 at 16:00 CET. ⏰ Lili Milani (University of Tartu) will present on pharmacogenomic studies in the Estonian Biobank, highlighting insights from long‑read sequencing. 🧬

🧬 ESHG Webinar Series – Season 2, Episode 3 📅 25 March 2026 | 16:00 CET 🎤 Lili Milani, University of Tartu 📊 Pharmacogenomic studies in the Estonian Biobank The webinar will take place via Zoom and is free to attend. 🔗 More information: www.eshg.org/webinarseries @eshgyoung.bsky.social

🔄 Inversions predispose to recurrent deletions and duplications in chromsome 15q13.3. 🔁 Using de-novo assemblies of 10 patient-parent trios, we investigated how recurrent copy-number variants (CNVs) in the 15q13.3 locus arise. www.biorxiv.org/content/10.6... A brief tour (1/17)

Congrats @wolfram-hops.bsky.social @christiangilissen.bsky.social and collaborators on this fantastic study! So much new biology and genome architecture insights - for a „long-known locus“ and „recurrent“ genomic disorders. Next generation cytogenetic insights! www.biorxiv.org/content/10.6...

On #rarediseaseday2026 , ESHG-Young stands with patients, families, clinicians, and researchers worldwide. @eshg.bsky.social #rarediseases #genetics #Research #Education #Collaboration

Rare disease research works best when communities unite. This week’s blog explores hackathons where clinicians, researchers, and families collaborate to solve cases, share insights, and strengthen networks that advance progress worldwide. Full blog here: bit.ly/4ucRXlU #WeCareForRare #PacBio

Rare disease month: Activating the community through hackathons - PacBio

Rare disease hackathons bring together bioinformaticians, scientists, clinical geneticists, and variant analysts to solve unresolved cases.

bit.ly

⏳ Final call for abstracts! The extended deadline to submit your abstract for #eshg2026 is tomorrow (no exceptions possible). Don’t miss the opportunity to showcase your research and be part of the programme. Submit now and find all details on the ESHG website: 2026.eshg.org/abstracts/