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)

Automated analysis and annotation Timon van Leeuwen, Raoul Timmermans, Jordi Corominas and enabled diagnostic-level interpretation.
(10/n)

The implementation – based on incredible team effort from diagnostic divisions of @radboudumc.bsky.social and MUMC+ - Janneke Weiss included to move for fully automated library preparations Tom Hofste, scalable sequencing Ronny Derks Amber den Ouden.
(9/n)

Particular mentions to @lydiasagath.bsky.social, @bartvds.bsky.social, Wolfram Höps, Tessa de Bitter, and many others including a great lab team Marloes Steehouwer, Michael Kwint, Nick Zomer.
(8/n)

All of this was enabled by a fantastic team effort over all these years (way too many to mention them all): basic and translational research utilizing lrGS driven together with the research groups led by my amazing long-term collaborators Lisenka Vissers & @christiangilissen.bsky.social!
(7/n)

Also enabled more collaborations on tool development, e.g. 10.0.3.248/j.ajhg.2023....; 10.0.4.162/s12864-023-0...; 10.0.4.77/gr.280060.124
Also with great team of @meberle.bsky.social!
(6/n)

Recent years allowed scalability for price and throughput of HiFi genome sequencing –currently enabled on four Revio instruments. Allowing clinical utility studies, e.g. 10.0.3.248/j.ajhg.2024....; and EMEA-level multi-center clinical utility: doi.org/10.1101/2025...
(5/n)

- Scaling lrGS by Sequel IIe – moving to HiFi genomes, e.g. 10.0.4.162/s13073-023-0...
- Several rare disease discoveries in many collaborative efforts, e.g. by Solve-RD and scaled in ERDERA 10.0.4.77/gr.279414.124; & many other great collaborators 10.0.3.234/path.5755; 10.0.4.135/000280290
(4/n)

- While colleagues at diagnostics introduced innovative long-amplicons e.g. doi.org/10.1038/s415...
(3/n)

Basic and translational research utilizing long-read genome sequencing (lrGS)
- Starting with using the RSII in the Eichler lab in 2013
- Getting first Sequel I in 2018, pioneering first trio studies: 10.0.4.14/s41431-020-0...
(2/n)

Our featured article: Structural variants in the 3D genome as drivers of disease - Review by Varun K. A. Sreenivasan, Verónica Yumiceba & Malte Spielmann go.nature.com/4oiPdPQ
Free to read here: rdcu.be/eu0KR