Scalable and comprehensive mosaic variant calling using DRAGEN https://www.medrxiv.org/content/10.64898/2026.02.03.26345450v1

We’re excited to confirm Fritz Sedlazeck as our first speaker for #nanoporeconf! His research confronts genomic inequity, identifying novel variants that could influence disease risk, gene regulation and healthcare in Hispanic populations. https://bit.ly/4sOxMKd

The next edition of our #ComparativeGenomics course is just around the corner (📅 23–27 February)! A few seats are still available — don’t miss the opportunity to learn comparative #genomics from Ingo Ebersberger & @sedlazeck.bsky.social 🚀 🔗 www.physalia-courses.org/courses-work... ‪

Many thanks to @iscb.bsky.social for a fantastic visit at their meeting in Hong Kong last week! Met so many great people during that week. Many thanks also to Ruibang ! Always great to make a bad joke while taking a picture ;)

Huge thanks to @sedlazeck.bsky.social l Luis and everyone who joined our Structural Variant Detection & Comparison course! 🚀✨ We dived deep, learned tons, and had some insightful questions and lively discussions — you all made it very successful! Wishing you all the best smashing your projects!

@benlangmead.bsky.social giving a talk about rowing his boat and explaining pangenomes with that :). Amazing talk about reference biases and the future to avoid it. Fascinating talk at @bcmhgsc.bsky.social @riceuniversity.bsky.social ! @treangen.bsky.social

Check major accomplishments of @gregor-research.bsky.social. @eurekalert.bsky.social @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com www.eurekalert.org/news-release...

We have just started the workshop on Structural Variant detection from short @illumina and long reads @nanoporetech.com @pacbio.bsky.social with @sedlazeck.bsky.social , Luis and a very international group of attendees. www.physalia-courses.org/courses-work...

Excited to co-host @benlangmead.bsky.social at @bcmhouston.bsky.social Dec 3rd 4:00-5:00 PM. He is a lead in pangenomics! A rare opportunity to learn more about reference issues, so dont miss out! More information events.rice.edu/event/guest-... @treangen.bsky.social @ricecompsci.bsky.social

Join us on our 3 day (Dec 1-3) #workshop @physaliacourses.bsky.social teaching about Structural Variant detection from short and long reads. We will give insights into different approaches to detect SV from somatic to population scale. Only a few places left: www.physalia-courses.org/courses-work...

Learn about the major accomplishments of @gregor-research.bsky.social. R. Gibbs, @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com blogs.bcm.edu/2025/11/18/f...

From coffee-fueled coding marathons ☕ to new genomics tools: Our 2024 #Hackathon paper is out in @f1000publishing.bsky.social ! Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉 🔗 f1000research.com/articles/14-... @gregor-research.bsky.social @smahtnetwrk.bsky.social

New in @nature.com! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500+ individuals in 3,000+ families. 🧬 www.nature.com/articles/s41...

From coffee-fueled coding marathons ☕ to new genomics tools: Our 2024 #Hackathon paper is out in @f1000publishing.bsky.social ! Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉 🔗 f1000research.com/articles/14-... @gregor-research.bsky.social @smahtnetwrk.bsky.social

plsRT: Looking for a motivated postdoc! Join us at @bcmhgsc.bsky.social to explore the mosaic & somatic landscape of the human genome: structural variants, methylation, and all things @smahtnetwrk.bsky.social If you like long reads, complex variants & methylation come talk to me!

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👏