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ahoischen.bsky.social
Alex Hoischen
@ahoischen.bsky.social
980 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
jshendure.bsky.social
Jay Shendure @jshendure.bsky.social · 15h
Super excited about first Shendure/Baker Lab collaboration & preprint on a multiplex sequencing-based strategy for screening de novo proteome editors in mammalian cells. Kudos to the brilliant Chase Suiter (not here) & @greenahn.bsky.social on the work! Preprint here:
www.biorxiv.org/content/10.1...
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 15h
With #ashg25 starting my #FOMO is getting real - so sorry to miss this year’s edition- esp. to continue to build bridges between our amazing societies @geneticssociety.bsky.social & @eshg.bsky.social.
Have a fab conference all - regards to all friends and collaborators and keep the “tweets” coming!
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Reposted by Alex Hoischen
pacbio.bsky.social
PacBio @pacbio.bsky.social · 18h
#PacBio announces major upcoming advances for #Revio and #Vega designed to lower genome costs, expand multiomic capabilities, and support regulated research.

The SPRQ-Nx chemistry, now in beta access, delivers complete genomes for under $300 at scale.

View the press release: bit.ly/4o06eyH
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Reposted by Alex Hoischen
mikeschatz.bsky.social
Mike Schatz @mikeschatz.bsky.social · 16h
Getting excited for #ASHG25. The must see talk is tomorrow at 1:30 by Qiuhui (Iris) Li presenting the first large-scale integration of long-read genome sequencing with electronic health record data across >1000 All of Us participants meetings.ashg.org/event/ASHG25...
PheedLoop
PheedLoop: Hybrid, In-Person & Virtual Event Software
meetings.ashg.org
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Reposted by Alex Hoischen
omicsomics.bsky.social
Keith Robison @omicsomics.bsky.social · 20h
PacBio: $300 Genome Via Chemistry Update 🧬🖥️

omicsomics.blogspot.com/2025/10/pacb...
PacBio: $300 Genome Via Chemistry Update
ASHG is here in Boston, just down the street from Ginkgo's HQ.  I'm in a new role in Ginkgo Automation, trying to convince the NGS world tha...
omicsomics.blogspot.com
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Reposted by Alex Hoischen
eshgyoung.bsky.social
eshgyoung.bsky.social @eshgyoung.bsky.social · 20d
📢 📢 📢 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 · 13d
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 13d
Thanks to everyone who contributed to this wonderful event!
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 13d
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 · 20d
🚂 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 · 20d
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 · 20d
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 · 21d
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 · 24d
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 · 29d
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 · 29d
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 · 29d
…and another update: good and bad news!
Short reads got shorter - and long reads even longer…
ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 29d
…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 · 29d
…and long vs short reads are almost everywhere at #nvhg2025! ;-)
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ahoischen.bsky.social
Alex Hoischen @ahoischen.bsky.social · 29d
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 · Sep 15
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 · Sep 15
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 · Sep 15
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 · Sep 15
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 · Sep 15
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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