Alex Hoischen
@ahoischen.bsky.social
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
Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
https://shorturl.at/MxQ7O
https://www.immuno-genomics.com
Reposted by Alex Hoischen
🧬 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...
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...
November 21, 2025 at 12:33 PM
🧬 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...
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
BNR Beter aflevering: lnkd.in/eetSKFBd
Ook op Spotify: lnkd.in/eVC-Fzxt
November 17, 2025 at 11:23 AM
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
BNR Beter aflevering: lnkd.in/eetSKFBd
Ook op Spotify: lnkd.in/eVC-Fzxt
Long-read genome sequencing is new first-tier generic test in diagnostics of rare diseases
So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases @radboudumc.bsky.social.
www.radboudumc.nl/en/news-item...
(1/n)
So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases @radboudumc.bsky.social.
www.radboudumc.nl/en/news-item...
(1/n)
World first: Radboudumc pioneers new genetic test in clinical practice - New test is faster, more efficient, and provides more diagnoses for rare diseases
17 November 2025
www.radboudumc.nl
November 17, 2025 at 8:29 AM
Long-read genome sequencing is new first-tier generic test in diagnostics of rare diseases
So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases @radboudumc.bsky.social.
www.radboudumc.nl/en/news-item...
(1/n)
So satisfying to see a long journey end in best-possible diagnostic test for patients with rare diseases @radboudumc.bsky.social.
www.radboudumc.nl/en/news-item...
(1/n)
Great to see our new preprint our. Thanks for everybody of the HiFi Solves EMEA consortium for their valuable contribution - this study was driven by the wonderful @bartvds.bsky.social @radboudumc.bsky.social!
Exciting to show clinical utility of lrGS in multi-center study.
Exciting to show clinical utility of lrGS in multi-center study.
A new multi-center study from the EMEA HiFi Solves Consortium shows the clinical research potential of HiFi. Combined with our latest informatics pipeline, HiFi identified 100% of clinically relevant variants across 11 complex regions, including those short reads missed.
👉 bit.ly/4oqMWCY
👉 bit.ly/4oqMWCY
November 7, 2025 at 12:50 PM
Great to see our new preprint our. Thanks for everybody of the HiFi Solves EMEA consortium for their valuable contribution - this study was driven by the wonderful @bartvds.bsky.social @radboudumc.bsky.social!
Exciting to show clinical utility of lrGS in multi-center study.
Exciting to show clinical utility of lrGS in multi-center study.
Reposted by Alex Hoischen
A new multi-center study from the EMEA HiFi Solves Consortium shows the clinical research potential of HiFi. Combined with our latest informatics pipeline, HiFi identified 100% of clinically relevant variants across 11 complex regions, including those short reads missed.
👉 bit.ly/4oqMWCY
👉 bit.ly/4oqMWCY
November 5, 2025 at 4:40 PM
A new multi-center study from the EMEA HiFi Solves Consortium shows the clinical research potential of HiFi. Combined with our latest informatics pipeline, HiFi identified 100% of clinically relevant variants across 11 complex regions, including those short reads missed.
👉 bit.ly/4oqMWCY
👉 bit.ly/4oqMWCY
Reposted by Alex Hoischen
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes https://www.medrxiv.org/content/10.1101/2025.10.29.25339045v1
October 31, 2025 at 7:40 PM
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes https://www.medrxiv.org/content/10.1101/2025.10.29.25339045v1
Reposted by Alex Hoischen
Our November 2025 issue is now live: go.nature.com/4hlXnVx
Topics include: the impact of structural variation on the 3D genome in disease; single-cell DNA sequencing of somatic mutations; the role of transcription compartments in gene regulation; synonymous mutations and their consequences
Topics include: the impact of structural variation on the 3D genome in disease; single-cell DNA sequencing of somatic mutations; the role of transcription compartments in gene regulation; synonymous mutations and their consequences
October 15, 2025 at 11:54 AM
Our November 2025 issue is now live: go.nature.com/4hlXnVx
Topics include: the impact of structural variation on the 3D genome in disease; single-cell DNA sequencing of somatic mutations; the role of transcription compartments in gene regulation; synonymous mutations and their consequences
Topics include: the impact of structural variation on the 3D genome in disease; single-cell DNA sequencing of somatic mutations; the role of transcription compartments in gene regulation; synonymous mutations and their consequences
Reposted by Alex Hoischen
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
Free to read here: rdcu.be/eu0KR
Structural variants in the 3D genome as drivers of disease
Nature Reviews Genetics - Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical...
rdcu.be
October 15, 2025 at 11:54 AM
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
Free to read here: rdcu.be/eu0KR
Reposted by Alex Hoischen
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...
www.biorxiv.org/content/10.1...
October 14, 2025 at 6:45 PM
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...
www.biorxiv.org/content/10.1...
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!
Have a fab conference all - regards to all friends and collaborators and keep the “tweets” coming!
October 14, 2025 at 6:31 PM
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!
Have a fab conference all - regards to all friends and collaborators and keep the “tweets” coming!
Reposted by Alex Hoischen
#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
The SPRQ-Nx chemistry, now in beta access, delivers complete genomes for under $300 at scale.
View the press release: bit.ly/4o06eyH
October 14, 2025 at 3:33 PM
#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
The SPRQ-Nx chemistry, now in beta access, delivers complete genomes for under $300 at scale.
View the press release: bit.ly/4o06eyH
Reposted by Alex Hoischen
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
October 14, 2025 at 5:40 PM
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...
Reposted by Alex Hoischen
Reposted by Alex Hoischen
📢 📢 📢 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
📅 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
September 25, 2025 at 8:28 AM
📢 📢 📢 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
📅 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
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!
Cas not only presented his impressive thesis - but his outstanding offer was recognized with a “cum laude” distinction. Well done and very well deserved!
October 2, 2025 at 7:08 AM
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!
Cas not only presented his impressive thesis - but his outstanding offer was recognized with a “cum laude” distinction. Well done and very well deserved!
Reposted by Alex Hoischen
🚂 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...
📺 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
September 24, 2025 at 6:48 PM
🚂 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...
📺 youtu.be/JmlY5omxQVc
📄 www.nature.com/articles/s41...
Reposted by Alex Hoischen
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.
September 24, 2025 at 1:12 PM
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.
Wow!
Amazing - and first glimpses of hope for patients and families with this devastating rare disease.
www.bbc.com/news/article...
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
September 24, 2025 at 12:40 PM
Wow!
Amazing - and first glimpses of hope for patients and families with this devastating rare disease.
www.bbc.com/news/article...
Amazing - and first glimpses of hope for patients and families with this devastating rare disease.
www.bbc.com/news/article...
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.
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.
September 23, 2025 at 9:11 PM
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.
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
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
See you all in Pavia for #EuroDysmorpho 2026!
@eshg.bsky.social @silk93.bsky.social
September 20, 2025 at 1:23 PM
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
See you all in Pavia for #EuroDysmorpho 2026!
@eshg.bsky.social @silk93.bsky.social
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.
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
September 16, 2025 at 9:10 AM
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.
Amongst them my wonderful colleague Richarda de Voer talking about the role for postzygotic mutations in cancer.
…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!
…I’d be disappointed if he could squeeze the big 500degree plan in less then 200 slides!
September 15, 2025 at 3:41 PM
…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!
…I’d be disappointed if he could squeeze the big 500degree plan in less then 200 slides!
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!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
September 15, 2025 at 1:40 PM
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!
…the future of germline testing is clear now: generic first tier testing by long-read genome sequencing!
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.
September 15, 2025 at 8:54 AM
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.
Looking forward to #nvhg2025! Great science ahead - and catching up with friends, colleagues and collaborators.
@nvhg.bsky.social
@nvhg.bsky.social
September 15, 2025 at 6:24 AM
Looking forward to #nvhg2025! Great science ahead - and catching up with friends, colleagues and collaborators.
@nvhg.bsky.social
@nvhg.bsky.social