Fritz Sedlazeck

Thanks Ben for a fantastic visit! Hopefully see you soon

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...

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...

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

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

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...

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.

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

GREGoR: accelerating genomics for rare diseases - Nature The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

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

This is a great course and deep dive into comp. genomics with Ingo and me! Always great discussions across all types of organisms and how to identify variants and compare assemblies etc. Join us to learn more!

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!

Thanks Mitch for all your support!

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

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...

Yeah that's why I got interested .. :)

Constellation illuminates rare disease genetics Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...

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...

Population-scale Long-read Sequencing in the All of Us Research Program The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-geno...

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

Yeah reflecting on it today... Was a spook with spin up and doing 12 knots down wind...

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 !