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.
07.11.2025 12:50 — 👍 8 🔁 2 💬 0 📌 0
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
05.11.2025 16:40 — 👍 10 🔁 2 💬 0 📌 1
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes https://www.medrxiv.org/content/10.1101/2025.10.29.25339045v1
31.10.2025 19:40 — 👍 2 🔁 2 💬 0 📌 0
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
15.10.2025 11:54 — 👍 6 🔁 2 💬 1 📌 0
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...
14.10.2025 18:44 — 👍 97 🔁 33 💬 0 📌 0
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!
14.10.2025 18:31 — 👍 2 🔁 0 💬 0 📌 0
#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
14.10.2025 15:33 — 👍 8 🔁 7 💬 0 📌 2
PheedLoop
PheedLoop: Hybrid, In-Person & Virtual Event Software
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...
14.10.2025 17:40 — 👍 43 🔁 9 💬 1 📌 0
📢 📢 📢 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
25.09.2025 08:28 — 👍 3 🔁 2 💬 0 📌 1
02.10.2025 07:08 — 👍 2 🔁 1 💬 0 📌 0
Thanks to everyone who contributed to this wonderful event!
02.10.2025 07:08 — 👍 1 🔁 0 💬 1 📌 0
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!
02.10.2025 07:08 — 👍 2 🔁 0 💬 1 📌 0
YouTube video by Stowers Institute for Medical Research
How Stowers Scientists Found the DNA Site Where Robertsonian Chromosomes Fuse
🚂 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...
24.09.2025 18:48 — 👍 44 🔁 28 💬 4 📌 2
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.
24.09.2025 13:12 — 👍 35 🔁 5 💬 0 📌 1
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
20.09.2025 13:22 — 👍 3 🔁 2 💬 1 📌 0
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%!!!
16.09.2025 09:09 — 👍 1 🔁 0 💬 0 📌 0
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.
16.09.2025 09:09 — 👍 2 🔁 1 💬 1 📌 0
…and another update: good and bad news!
Short reads got shorter - and long reads even longer…
15.09.2025 18:54 — 👍 0 🔁 0 💬 0 📌 0
…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!
15.09.2025 15:41 — 👍 1 🔁 0 💬 1 📌 0
…and long vs short reads are almost everywhere at #nvhg2025! ;-)
15.09.2025 15:37 — 👍 2 🔁 0 💬 1 📌 0
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!
15.09.2025 13:40 — 👍 2 🔁 3 💬 1 📌 0
And of course also all technicians and PhD candidates are also crucial to our group. Keep up the great effort!
15.09.2025 08:54 — 👍 1 🔁 0 💬 0 📌 0
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!
15.09.2025 08:54 — 👍 0 🔁 0 💬 1 📌 0
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.
15.09.2025 08:54 — 👍 1 🔁 0 💬 1 📌 0
Day one #nvhg2025 kicked of by the great Hans Clevers - amazing how organoids help basic scientific understanding all the way to therapies!
15.09.2025 08:12 — 👍 1 🔁 1 💬 0 📌 0
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.
15.09.2025 06:24 — 👍 0 🔁 0 💬 1 📌 0
Scientist in transit. Meet me @College-de-France Paris🇪🇺 or @Arolla🇨🇭#InHoxWeTrust #GesamtNaturWerk. Et Ce Fut Tout.
EPIGENETIC HULK SMASH PUNY GENOME. MAKE GENOME GO. LOCATION: NOT CENTROMERE, THAT FOR SURE
We are the Noordermeer lab at the Institute for Integrative Biology of the Cell - Université Paris-Saclay. Interested in 3D genome organization, enhancer-promoter contacts, epigenetics, genomic imprinting, loop extrusion and everything CTCF.
Functional Genomics Team Leader @CNAG 🧬💻🔎 omics, rare diseases, single-cell, long-reads, transposons.
Senior Researcher at the University of Melbourne, Australia | Closing the diagnostic gap for rare diseases with rapid proteomics
The Centro Nacional de Análisis Genómico carries out projects in genome analysis to improve people’s health and quality of life
#genomics #personalisedmedicine
Science Director of OpenTargets and Group Leader at Wellcome Sanger Institute
Genetics, immunology, drug discovery
Outdoors, cats, dogs and all animals
Views are my own
geneticist - scientist - cyclist
Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. Part of @natureportfolio.bsky.social
Repost/like=interesting/relevant, not necessarily endorsement.
We are a world leader in genomics research. We apply and explore genomic technologies to advance the understanding of biology and improve health 🧬
https://www.sanger.ac.uk/
Computational biologist using omics data (imaging, gene expression) to investigate the impacts of environmental contaminants on biological systems
Group Leader @EMBL-EBI (www.ewaldlab.org)
The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from research projects.
https://ega-archive.org/
The International Mouse Phenotyping Consortium (IMPC) is an international programme to find the function of every protein-coding gene in the mouse genome.
