Join us & @bcmhgsc.bsky.social for the 8th annual hybrid #hackathon! This is a great opportunity to collaborate with the structural variation community to solve cutting edge problems in genomics. Applications are due by August 10th: hubs.ly/Q04pc3K40 @dcgenomics.bsky.social @sedlazeck.bsky.social

Four days, one whiteboard, forty open browser tabs, and against all odds, something that actually makes an impact in the field :). Hackathon @bcmhgsc.bsky.social Aug 25-28 Register:https://fritzsedlazeck.github.io/blog/2026/hackathon-2026/ @dnanexus.bsky.social @dcgenomics.bsky.social

Its been a while but last weekend I finally got to sail again a race. The best view when finishing a race :)

You can join us at the end of Nov if you want to learn how to analyse SVs www.physalia-courses.org/courses-work...

Structural Variant detection and comparison

30 November - 2 December 2026 To foster international participation, this course will be held online

physalia-courses.org

Structural variant calling using Sniffles2 www.nature.com/articles/s41... Congratulations to Luis and @sedlazeck.bsky.social

Structural variant calling using Sniffles2 - Nature Protocols

Sniffles2 is an open-source software for reliable detection of structural variants (50 bp and upward) from long-read sequencing. Sniffles2 is able to call variants over a wide variant allele fraction ...

nature.com

Registrations are now open for the 4th edition of the Structural Variant detection course! with @sedlazeck.bsky.social & Luis Paulin! Learn short & long-read workflows, assembly & mapping methods, SV filtering, QC, population VCFs & much more www.physalia-courses.org/courses-work...

Structural Variant detection and comparison

30 November - 2 December 2026 To foster international participation, this course will be held online

physalia-courses.org

Join us at our 8th Hackathon @bcmhgsc.bsky.social ! Registration: forms.gle/N4FDxuq34g5J... Dates: 25-28th Aug 2026 Location: Hybrid (online + in Houston) We are going to work on #bioinformatics problems that will be reported in F1000 publication. Come and join us! @dcgenomics.bsky.social

Today we kicked off the #ComparativeGenomics course with @sedlazeck.bsky.social & Ingo Ebersberger! On Day 1, we’re covering de novo assembly strategies, best practices, and quality control for genome assemblies.

Sensational #ASHG event on detecting variants, including Structural Variants, from long reads learning.ashg.org/products/unc... @sedlazeck.bsky.social @bcmhouston.bsky.social

Last seats available! 🚨 Join our #ComparativeGenomics course with @sedlazeck.bsky.social & @Ingo Ebersberger and learn how to analyse, compare, and interpret genomes using modern bioinformatics approaches. Don’t miss it—registration is closing soon! @nanoporetech.com @pacbio.bsky.social

Physalia-courses@ONLINE@physaliacourses.bsky.social · 9mo ago

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

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... ‪

Physalia-courses@ONLINE@physaliacourses.bsky.social · 2y ago

Huge thanks to everyone who joined us for this week's 'Comparative Genomics' training course! 🧬 Shoutout to our stellar instructors, @IEbersberger and @sedlazeck.bsky.social , for their expertise and guidance! 🚀

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

Guest Lecture with Ben Langmead (Johns Hopkins University)

Register for a guest lecture on “Pan-genomic Advances for Fighting Reference Bias” with Ben Langmead, Professor of Computer Science at Johns Ho...

events.rice.edu

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...

Structural Variant detection and comparison

1-3 December 2025 To foster international participation, this course will be held online

physalia-courses.org

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...

How GREGoR Consortium is advancing the diagnostics of rare diseases

Learn about the major accomplishments of the consortium’s first five years and the frontiers in genomic medicine that researchers will tackle next.

blogs.bcm.edu

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...

GREGoR: accelerating genomics for rare diseases - Nature

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

nature.com

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!

Fritz Sedlazeck @sedlazeck.bsky.social · 10mo ago

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...