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.
Alex Hoischen
🧬New from @ahoischen.bsky.social & co!
📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Additional evidence for the fact: Long read genomes are the future of rare disease diagnostics and research (and more evidence following shortly)…
Using the great Paraphase tool built by Xiao Chen and @meberle.bsky.social @pacbio.bsky.social - we showcase that clinically relevant variants in paralogous genes (ie gene/pseudogene pairs) can now be identified with ease.
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
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 #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
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
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...
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...
