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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 · 16d

📢 📢 📢 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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Alex Hoischen @ahoischen.bsky.social · 9d

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Alex Hoischen @ahoischen.bsky.social · 9d

Thanks to everyone who contributed to this wonderful event!

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Alex Hoischen @ahoischen.bsky.social · 9d

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

Adam Phillippy @aphillippy.bsky.social · 17d

🚂 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

Kevin Mitchell @wiringthebrain.bsky.social · 17d

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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Alex Hoischen @ahoischen.bsky.social · 17d

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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Alex Hoischen @ahoischen.bsky.social · 18d

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.

Reposted by Alex Hoischen

eshgyoung.bsky.social @eshgyoung.bsky.social · 21d

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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Alex Hoischen @ahoischen.bsky.social · 25d

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%!!!

Alex Hoischen @ahoischen.bsky.social · 25d

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.