Alex Hoischen

🔄 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 month: Activating the community through hackathons - PacBio Rare disease hackathons bring together bioinformaticians, scientists, clinical geneticists, and variant analysts to solve unresolved cases.

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

⏳ 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/

Clinical long-read genome sequencing for rare disease diagnostics Background Diagnostic evaluation of rare genetic disorders continues to rely on multiple test modalities, despite the increasing use of short-read exome or genome sequencing as first-tier tests. Long-...

A 1,000-sample Radboud study shows HiFi WGS can help replace multiple clinical tests while enabling an increase in diagnostic findings, pointing to clear evidence that long reads are on track for first-line use.

Ready the study here: bit.ly/4jUxEF9

#PacBio #HiFisequencing #ClinicalGenomics

Special mention to coordinate all this work: @bartvds.bsky.social @radboudumc.bsky.social @erdera.bsky.social

Massive thanks to all collaborators. Particularly
Sandra Vorimo
@oulu.fi; Theresa Brunet TUM, Aïcha Boughalem CERBA, Tuomo Mantere and Detlef Trost!

- De novo mutation rate for large SVs of 0.23 per genome.
- Identification de novo and rare inherited SVs that had been missed by previous standard-of-care methods, with possible disease relevance in 5-14% of index cases.

Main insights:

- Demonstrating a very low false-positive rate for rare SV calling by OGM, allowing to easily determine de novo SVs (even in very challenging genomic regions).

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping Next-generation sequencing has unraveled the genetic cause for many individuals with a rare disease, but a significant number of individuals remain undiagnosed using standard of care tests. It is anti...

Very happy to see this preprint out; multi-center effort to run Bionano optical genome mapping (OGM) in undiagnosed rare disease patient-parent trios.

www.medrxiv.org/content/10.6...

Clinical long-read genome sequencing for rare disease diagnostics https://www.medrxiv.org/content/10.64898/2026.01.13.26343759v1

And many more great colleagues Genome Diagnostics Nijmegen Maastricht Radboudumc @radboudumc.bsky.social.

Soon this will become much more routine across Europe - eg via @erdera.bsky.social to help doctors and rare diseases patients and their families even more!

Proud to see this tremendous team effort out as a preprint!
Tessa de Bitter @bartvds.bsky.social @lydiasagath.bsky.social @wolfram-hops.bsky.social
@peerarts.bsky.social Michelle de Groot!

Co-coordinated by my amazing long-term collaborators @christiangilissen.bsky.social & Lisenka Vissers.

Clinical long-read genome sequencing for rare disease diagnostics Background Diagnostic evaluation of rare genetic disorders continues to rely on multiple test modalities, despite the increasing use of short-read exome or genome sequencing as first-tier tests. Long-...

1,000 PacBio genomes in a prospectively designed clinical utility study.
This was the biggest and most important study that made us go live in diagnostics.

Long-read genomes as a genetic first tier test across many rare diseases!
www.medrxiv.org/content/10.6...

This allows to further scale such clinical needs.
But shall also allow to further scale research use of OGM eg with @bartvds.bsky.social @lydiasagath.bsky.social Kornelia Neveling and involving collaborations via @erdera.bsky.social !

Main driver is our diagnostic use as a first tier cytogenetic assay for hematological malignancies. Great efforts by Marjan (Janneke) Weiss Marian Stevens-Kroef Daniel Olde Weghuis Tom Hofste and their teams at Genome Diagnostics Nijmegen Maastricht Radboudumc!

OGM - OMG!

Exciting to see that our department and facility remain committed to invest in innovative genomics.

Our Optical Genome Mapping lab just got two more Stratys instruments from Bionano installed!

🌟 Applications for the 2026 Leena Peltonen School of Human Genetics are open!

Back after a great 2025 edition: ~20 global leaders and ~20 PhD students shaping the future of genomics.

📅 July 26–30, 2026
📍 Wellcome Genome Campus, UK
📝 Apply by March 6 → www.lpshg.com

Thanks @genomeweb.bsky.social for the nice interview and coverage of our long-read genome efforts
@radboudumc.bsky.social @christiangilissen.bsky.social @bartvds.bsky.social @lydiasagath.bsky.social

www.genomeweb.com/sequencing/r...

On my way to Heidelberg. Looking forward to connect with @erdera.bsky.social and other CRN collaborators. Joint global efforts for rare diseases!

🚨 Last week to register for the 2nd International Conference on #CRNs! Global experts, fresh insights, inspiring sessions… don’t miss this standout event! 👉 Check speakers & session themes and register before it closes: https://loom.ly/1fhf8zI #RareDiseases #ClinicalResearch #ERDERA

Spatial Touchstone brings quality control to spatial transcriptomics Explore Spatial Touchstone’s open-source tools and data for standardized spatial transcriptomics, enabling reliable, cross-institutional gene expression analysis.

Spatial Touchstone brings quality control to spatial transcriptomics #NBTintheNews via @stjuderesearch.bsky.social www.stjude.org/media-resour...

Epigenomic and transcriptomic germ-free ageing atlas reveals sterile inflammation as an intrinsic ageing feature #SingleCell 🧪🧬🖥️
https://www.biorxiv.org/content/10.1101/2025.11.19.689100v1

Epigenomic and transcriptomic germ-free ageing atlas reveals sterile inflammation as an intrinsic ageing feature https://www.biorxiv.org/content/10.1101/2025.11.19.689100v1

🧬 Episode 8 of the ESHG Webinar Series is coming up on Nov 26, 2025 at 16:00 CET!
Lisenka Vissers (Radboudumc, NL) will speak on translating long-read genome sequencing into clinical applications for rare diseases.
Free via Zoom – registration required.
wma.eventsair.com/eshg-webinar...

Dank Stijn Goossens en Nina van den Dungen voor het interview waarin ik samen met collega Wendy van Zelst-Stams namens ons geweldig team inzichten in long-read genome sequencing mocht geven.

BNR Beter aflevering: lnkd.in/eetSKFBd

Ook op Spotify: lnkd.in/eVC-Fzxt

In my vision lrGS has the potential to replace all (germline) tests – and truly revolutionize the field of human genetics.
Many thanks who helped to get here. Also many thanks to the entire team @pacbio.bsky.social for many great collaborative efforts.
(13/13)

Looking forward to new research discoveries moving forward and better care for many patients with rare disease locally, nationally and globally.
(12/n)

Real multidisciplinary effort – with visionary leadership – allowing innovations reach care at Radboudumc Helger Yntema, Wendy van Zelst-Stams, Arthur van den Wijngaard, Han Brunner.
(11/n)