Join our online #ComparativeGenomics course with Ingo & @sedlazeck.bsky.social , 23-27 Feb 2026! Learn genome assembly, variant detection (SNVs & SVs), and functional impact analysis with hands-on sessions. www.physalia-courses.org/courses-work... #Bioinformatics #Genomics

Trio-barcoded @nanoporetech.com Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & high cov: 76% solve rate across 13 trios inc. two corrections from prev. diagnosis. www.medrxiv.org/content/10.1... @gregor-research.bsky.social @bcmhgsc.bsky.social #Research

We introduce trio-barcoded @nanoporetech.com adaptive sampling (TBAS), which allows targeted sequencing of one trio in one flowcell. We tested it on HG002-4+13 trios from GREGoR. TBAS and pipeline accurately report causative SNV, SV&TRs. @sedlazeck.bsky.social www.medrxiv.org/content/10.1...

Working with @sedlazeck.bsky.social and his group on exploring the utility of Constellation has been amazing. So happy to see this preprint out!

Are you interested in Structural Variants? 🧬 Join our online course (1–3 Dec) to learn how to detect, compare, and annotate SVs from short & long @nanoporetech.com reads with @sedlazeck.bsky.social and Luis Paulin! 🚀 www.physalia-courses.org/courses-work...

We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social. We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...

Read the preprint here with all the details, plus lots of other long-read powered analysis! www.medrxiv.org/content/10.1...

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....

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.....

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.

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!

🧬 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!

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!

🚀 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 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 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!

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

Interested in Comparative Genomics? Join us to learn genome assemby&annotation, variant detection, and evolutionary analysis with lots of hands-on sessions! @nanoporetech.com @pacbio.bsky.social @sedlazeck.bsky.social www.physalia-courses.org/courses-work...

Very exciting results shared by Fritz Sedlazeck @sedlazeck.bsky.social including my favourite mosaic variants. While Sniffles2 is well known, other tools from his lab can detect mosaic SVs (Sniffles2 Mosaic) and also assign them to cell types using methylation changes (Sniffmeth). So cool! #RNGS25

Boost your skills with our April online courses – Limited Seats Available! 🔗 www.physalia-courses.org/courses-work... @passdan.bsky.social @andreaguarracino.bsky.social @sedlazeck.bsky.social @petrathepostdoc.bsky.social @philipleftwich.bsky.social

The new issue of @genomeresearch.bsky.social is now live! Follow the link to new research on mitochondrial–nuclear gene expression regulation, guppy Y Chromosome genomics, and more! tinyurl.com/Genome-Res-3...

Interested in Comparative Genomics? You can still join us for this 5-day course with @sedlazeck.bsky.social and Ingo Ebersberger Check it out: www.physalia-courses.org/courses-work...

Well and we thought Covid was though for (young) scientist careers.. just saying ...

nice sailing races over the past weekends.

FastOMA is out now in Nature Methods 🎉: nature.com/articles/s41592-024-02552-8 A new orthology inference algorithm that scales linearly and is highly accurate. FastOMA can process all >2000 eukaryotic UniProt ref proteomes <24 hours 🚀. Try it out github.com/DessimozLab/fastoma @dessimoz.bsky.social

How does it work? 🔍 FastOMA uses 1️⃣ A fast k-mer based placement for clustering homologous genes 2️⃣ Highly parallelized, taxonomy-guided processing of gene family. FastOMA also handles multiple isoforms for the genes! Read more on FastOMA in our behind-the-paper blogpost: go.nature.com/4a3V9q3

Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at ftp-trace.ncbi.nlm.nih.gov/ReferenceSam..., based on extensive short+long read sequencing data described in doi.org/10.1101/2024.... Feedback to improve future versions is very welcome!

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338 Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬

Dr. Fritz @sedlazeck.bsky.social will discuss comprehensive genomics during the "Modern aspects of functional #genomics" session at #RNGS25. He joins a packed program filled with key researchers from academia & industry. Check out the other speakers & program here: vibbio.tech/3Bl4MnH

Another incredible edition of our Structural Variants course is wrapping up! 🎉🔬 A huge thank you to the brilliant @sedlazeck.bsky.social @lfpaulin, and all our participants for making these days so productive and insightful. physalia-courses.org/courses-work...