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ahoischen.bsky.social
Alex Hoischen
@ahoischen.bsky.social
970 followers 380 following 170 posts
Genomic technologies: WES/WGS, long-read sequencing, optical genome mapping, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis https://shorturl.at/MxQ7O https://www.immuno-genomics.com
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Reposted by Alex Hoischen
eshgyoung.bsky.social
eshgyoung.bsky.social @eshgyoung.bsky.social · 13d
📢 📢 📢 Join African Society of Human Genetics and @eshgyoung.bsky.social lunch seminar series 📢 📢 📢

📅 The first episode is on 2nd October 13:00-14:00 CET (12:00-13:00 WAT)

Join us on teams (no pre-registration needed):
lnkd.in/ecwt-Nva
Meeting ID: 328 781 679 974 3
Passcode: F63nX7JV
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 6d
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 6d
Thanks to everyone who contributed to this wonderful event!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 6d
What a great day and thesis defense by Cas van der Made. A very proud PI moment for me, Frank van de Veerdonk and Mihai Netea!
Cas not only presented his impressive thesis - but his outstanding offer was recognized with a “cum laude” distinction. Well done and very well deserved!
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Reposted by Alex Hoischen
aphillippy.bsky.social
Adam Phillippy @aphillippy.bsky.social · 14d
🚂 The T2T train keeps rolling: "The formation and propagation of human Robertsonian chromosomes" with Gerton and Garrison labs is out! What's a Robertsonian chromosome? Let Jen tell you herself in this great video, or read our paper: [1/3]
📺 youtu.be/JmlY5omxQVc
📄 www.nature.com/articles/s41...
How Stowers Scientists Found the DNA Site Where Robertsonian Chromosomes Fuse
YouTube video by Stowers Institute for Medical Research
youtu.be
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Reposted by Alex Hoischen
wiringthebrain.bsky.social
Kevin Mitchell @wiringthebrain.bsky.social · 14d
Wow! If this holds up, it will be a triumph of science (i.e., of many hundreds of dedicated scientists over decades) over a devastating disease.
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 14d
Wow!
Amazing - and first glimpses of hope for patients and families with this devastating rare disease.

www.bbc.com/news/article...
Huntington's disease successfully treated for first time
One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.
www.bbc.com
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 15d
Great start of the “3rd Channelopathy Meeting Tübingen
Genetic epilepsies and other neuronal ion channel disorders: Mechanisms and therapeutic perspectives; 23rd-25th September 2025, Tübingen, Germany”.

Here the first DNA was isolated - ever.
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Reposted by Alex Hoischen
eshgyoung.bsky.social
eshgyoung.bsky.social @eshgyoung.bsky.social · 18d
Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities.

See you all in Pavia for #EuroDysmorpho 2026!

@eshg.bsky.social @silk93.bsky.social
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 22d
Followed by a talk by my fabulous postdoc Bart van der Sanden demonstrating that long-read genome sequencing is not only very accurate in identifying de novo mutations for all variant types; but excitingly also promises extra yield of sr-exome/genome sequencing between 7-17%!!!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 22d
Starting day two at #nvhg2025 with some great talks!
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
…and another update: good and bad news!
Short reads got shorter - and long reads even longer…
ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
…time to fasten your seatbelts @nvhg.bsky.social #nvhg2025 for the evening plenary by the one-and-only Chris Mason.
…I’d be disappointed if he could squeeze the big 500degree plan in less then 200 slides!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
…and long vs short reads are almost everywhere at #nvhg2025! ;-)
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
Great delivery of his #nvhg2025 presentation by @wolfram-hops.bsky.social!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
And of course also all technicians and PhD candidates are also crucial to our group. Keep up the great effort!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
It’s through your drive, dedication, supervision skills that our lab thrives. But more importantly I appreciate how wonderful human beings you are that enrich not only our group but our departments and community!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
This week is “postdoc” appreciation week! And yes, I am extremely grateful for all amazing work done by postdocs - past and present. In particular the wonderful Tuomo Mantere @bartvds.bsky.social @lydiasagath.bsky.social Cas van der Made Mariolina Bruno & Emil Vorsteveld.
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
Day one #nvhg2025 kicked of by the great Hans Clevers - amazing how organoids help basic scientific understanding all the way to therapies!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
Make sure you see the talks of our @radboudumc.bsky.social very one @wolfram-hops.bsky.social today on 1000 @pacbio.bsky.social genomes for clinical utility; and @bartvds.bsky.social tomorrow on 100 HiFi trio genomes for NDD discoveries.
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 23d
Looking forward to #nvhg2025! Great science ahead - and catching up with friends, colleagues and collaborators.
@nvhg.bsky.social
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 28d
www.radboudumc.nl/en/news-item...
Pioneering European collaboration boosts rare disease diagnosis through “Solvathons”
9 September 2025
www.radboudumc.nl
ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 28d
www.nature.com/articles/s41...
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease - Nature Genetics
This Perspective presents the Solve-RD Solvathon model, an innovative, pan-European framework uniting clinical and bioinformatics experts to diagnose rare diseases through integrative multiomics analy...
www.nature.com
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 28d
Let’s scale this globally and alltogether with eg ERDERA and many others.
Rare diseases are a global challenge and require extraordinary team efforts!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 28d
These Solvathons are more focused on set of technologies but vibe, fun, success and collaborative spirit is similar to the amazing Undiagnosed Hackathons conceived by the wonderful Mikk Cederroth Cederroth Helene from Wilhelm Foundation!
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