@sedlazeck.bsky.social
Yeah reflecting on it today... Was a spook with spin up and doing 12 knots down wind...
13.10.2025 12:12 — 👍 1 🔁 0 💬 0 📌 0
Finished a large sailing race in the golf with a little electrical fire on board at night (23 Miles off shore)..... Still finished beating some professional sailors .. haha . :)
Now on the way to @geneticssociety.bsky.social meeting with 5 people from my group. Say hi if you see us :)
Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬
#RareDisease #Research
#2025....
15.09.2025 20:27 — 👍 0 🔁 0 💬 0 📌 0
Today is our 7th #bioinformatics Hackathon
@bcmhgsc.bsky.social
! 120+ people from around the world attending! Super excited about all the new projects ! Thanks to @dcgenomics.bsky.social @dnanexus.bsky.social @gregor-research.bsky.social @smahtnetwrk.bsky.social @treangen.bsky.social !
Our lecture hall reminds me at star wars... Not necessarily the good side.....
03.09.2025 11:48 — 👍 4 🔁 0 💬 2 📌 0
Today is our 7th #bioinformatics Hackathon
@bcmhgsc.bsky.social
! 120+ people from around the world attending! Super excited about all the new projects ! Thanks to @dcgenomics.bsky.social @dnanexus.bsky.social @gregor-research.bsky.social @smahtnetwrk.bsky.social @treangen.bsky.social !
Well guess where my nephew decided to go for his honeymoon... Hawaii of corse .. :)
They are all fine but what an evening.. That will go straight into family stories. :) Hope everyone else is also just fine !
Last call for #bioinformatics #hackathon @bcmhgsc.bsky.social Aug 27-29. : fritzsedlazeck.github.io/blog/2025/ha...
Projects range from TR, SV to pangenomcs, metagenomics etc. will be published in F1000.
With from support: @dnanexus.bsky.social @smahtnetwrk.bsky.social @gregor-research.bsky.social
Come join us. Last spaces are filling up. Great opportunity to learn something new ( SV, Graph genomes etc) and get to know other people. We will report our findings in an f1000 report like every year.
26.06.2025 21:02 — 👍 1 🔁 2 💬 0 📌 0Come join us. Last spaces are filling up. Great opportunity to learn something new ( SV, Graph genomes etc) and get to know other people. We will report our findings in an f1000 report like every year.
26.06.2025 21:02 — 👍 1 🔁 2 💬 0 📌 0
Do you have an interesting benchmark experiment?
We wanna hear about it!
Special issue in Genome Biology live now: www.biomedcentral.com/collections/...
Submission Deadline: 28 January 2026
#bioinformatic #genetic #genomics
please share with your peers!
Come join us!
17.06.2025 21:17 — 👍 1 🔁 0 💬 0 📌 0
Already 30+ registered for our 7th #bioinformatics #hackathon
@bcmhgsc.bsky.social
around Structural Variants, Graph genomes & many related topics: fritzsedlazeck.github.io/blog/2025/ha...
Groups will work on interesting topics that will be published in F1000.
Registration till 10th of Aug!
Always great opportunity to discuss newest developments across short and long read sv calling and comparisons . Looking forward to this again !
17.06.2025 21:17 — 👍 1 🔁 1 💬 0 📌 0
🧬 Online course: Structural Variant Detection and Comparison with @sedlazeck.bsky.social & Luis Paulin
🗓 1–3 Dec | Learn to detect, filter & compare SVs from short/long reads @nanoporetech.com @pacbio.bsky.social www.physalia-courses.org/courses-work...
Do you have an interesting benchmark experiment?
We wanna hear about it!
Special issue in Genome Biology live now: www.biomedcentral.com/collections/...
Submission Deadline: 28 January 2026
#bioinformatic #genetic #genomics
please share with your peers!
Already 30+ registered for our 7th #bioinformatics #hackathon
@bcmhgsc.bsky.social
around Structural Variants, Graph genomes & many related topics: fritzsedlazeck.github.io/blog/2025/ha...
Groups will work on interesting topics that will be published in F1000.
Registration till 10th of Aug!
www.nature.com/articles/s42...
After a long wait, our response to criticism of Gauchian for GBA analysis in Illumina WGS is finally published with @sedlazeck.bsky.social thanks to @asapresearch.parkinsonsroadmap.org
1/ 🧬 A Hitchhiker’s Guide to Long-Read Genomic Analysis is out now!
This mini-review walks through the latest advances in long-read DNA sequencing — from assemblies to variant calling to epigenetics.
Link 🔗 genome.cshlp.org/content/35/4...
🧵👇
Come join us at our 7th #bioinformatics #hackathon @bcmhgsc.bsky.social around Structural Variants, Graph genomes & many related topics: fritzsedlazeck.github.io/blog/2025/ha...
Groups will work on interesting topics that will be published in F1000.
Registration till 10th of Aug!
Will be great to work together on timely topics around complex variants, mosaic variants ( @smahtnetwrk.bsky.social ) , mendelian ( @gregor-research.bsky.social ) diseases and many more!
This is a hybrid event and we welcome participation from around the world from trainees to full professors.
Come join us at our 7th #bioinformatics #hackathon @bcmhgsc.bsky.social around Structural Variants, Graph genomes & many related topics: fritzsedlazeck.github.io/blog/2025/ha...
Groups will work on interesting topics that will be published in F1000.
Registration till 10th of Aug!
🚨 Course alert!
Structural Variant Detection & Comparison with @sedlazeck.bsky.social & Luis Paulin
🧬 Learn to identify & analyze germline/somatic SVs using short & long reads @nanoporetech.com @pacbio.bsky.social
📅 Dec 1–3
👉 www.physalia-courses.org/courses-work...
Part 2 of the #longreads @genomeresearch.bsky.social special issue is out! Thanks to @ahoischen.bsky.social and @sedlazeck.bsky.social for the great collaboration. The issue features many novel tools and applications showing the strong advance of this field @longtrec.bsky.social @hitseq.bsky.social
14.04.2025 21:34 — 👍 9 🔁 4 💬 0 📌 1And a special thanks to Guest Editors @anaconesa.bsky.social, @ahoischen.bsky.social, and @sedlazeck.bsky.social for helping make this special collection (x2) such a success!
14.04.2025 20:03 — 👍 3 🔁 3 💬 0 📌 1The 6th iteration ! This workshop started a while ago and still proofs to be relevant. Very proud of keeping it up over the years and getting to know so many talented scientists that participate. Thank you all!
11.04.2025 16:51 — 👍 1 🔁 0 💬 0 📌 0
🚀 Truvari v5.0 is here! 🎉
What’s new?
🔹 Enhanced symbolic variant support for <DEL>, <DUP>, <INV>
🔹 Robust BND comparison for cross-representation SV matching
🔹 Improved SV sequence similarity & HUGE SV support
🔹 Cleaner UI & Revamped API
👉 More: github.com/ACEnglish/tr...
#Genomics #Bioinformatics
Our method for SV genotyping with long-reads is now published! 🐷
⚡️ Genotype single-sample or project-level VCFs with ease.
Latest release: ✅ Up to 8x faster runtime
✅ Haplotagged read support for SV phasing
📝 Paper: www.nature.com/articles/s41...
🔧 Code: github.com/ACEnglish/ka...
How can you not trust this little guy with your Structural Variant needs? ;)
09.04.2025 12:39 — 👍 2 🔁 0 💬 0 📌 0
