Fritz Sedlazeck

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.

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.

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!

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 !

Structural Variant detection and comparison 1-3 December 2025 To foster international participation, this course will be held online

🧬 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...
🧵👇

a cat is sitting in front of a laptop computer on a couch . ALT: a cat is sitting in front of a laptop computer on a couch .

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.

a cat is sitting in front of a laptop computer on a couch . ALT: a cat is sitting in front of a laptop computer on a couch .

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

And 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!

The 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!

GitHub - ACEnglish/truvari: Structural variant toolkit for VCFs Structural variant toolkit for VCFs. Contribute to ACEnglish/truvari development by creating an account on GitHub.

🚀 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

K-mer analysis of long-read alignment pileups for structural variant genotyping - Nature Communications Accurately genotyping structural variant (SV) alleles is crucial to genomics research. Here the authors present a rapid and accurate method that avoids common errors seen with other genotypers, partic...

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? ;)

K-mer analysis of long-read alignment pileups for structural variant genotyping - Nature Communications Accurately genotyping structural variant (SV) alleles is crucial to genomics research. Here the authors present a rapid and accurate method that avoids common errors seen with other genotypers, partic...

How to accurately genotype SV is important & we discovered a huge bias in other methods!

Many improvements across population wide SV calling!

Out now Kanpig: nature.com/articles/s41...
@naturecomms.bsky.social
Great work from Adam E @bcmhouston.bsky.social
with help from @broadinstitute.org

Long reads such as @nanoporetech.com or @pacbio.bsky.social can provide insights into epigenetic. We
@yileifu.bsky.social & @timp0.bsky.social )summarize the latest #Bioinformatics approaches & why this matters! Out now @natrevgenet.bsky.social at:
bit.ly/4cjxUtl
@bcmhouston.bsky.social @jhu.edu

Long reads such as @nanoporetech.com or @pacbio.bsky.social can provide insights into epigenetic. We
@yileifu.bsky.social & @timp0.bsky.social )summarize the latest #Bioinformatics approaches & why this matters! Out now @natrevgenet.bsky.social at:
bit.ly/4cjxUtl
@bcmhouston.bsky.social @jhu.edu

Computational analysis of DNA methylation from long-read sequencing - Nature Reviews Genetics Long-read sequencing technologies can directly profile methylation modifications across the genome. In this Review, Fu et al. overview the long-read computational tools to identify and compare methyla...

Computational analysis of DNA methylation from long-read sequencing go.nature.com/3RqrPlc #Review by @yileifu.bsky.social, @timp0.bsky.social & @sedlazeck.bsky.social @bcmhouston.bsky.social @jhu.edu

Great new review @natrevgenet.bsky.social by @sedlazeck.bsky.social @timp0.bsky.social and @yileifu.bsky.social! 👇highlighting both the promise of long read DNA methylation analysis and remaining challenges such as the difficulty to benchmark 5hmC and non-CG 5mC given their low abundance👏

We summarized state-of-the-art computational methods for DNA methylation analysis using long-read sequencing, covering everything from base calling to sample-level, cell-type-level, and even population-scale analysis. Huge thanks to @sedlazeck.bsky.social and @timp0.bsky.social for this great work!

Computational analysis of DNA methylation from long-read sequencing Nature Reviews Genetics, Published online: 28 March 2025; doi:10.1038/s41576-025-00822-5Long-read sequencing technologies can directly profile methylation modifications across the genome. In this Review, Fu et al. overview the long-read computational tools to identify and compare methylation signals, as well as tools that use these methylation signals to analyse cell-type diversity and gain additional genomic insights.

New online! Computational analysis of DNA methylation from long-read sequencing