Fritz Sedlazeck
@sedlazeck.bsky.social
Reposted by Fritz Sedlazeck
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
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social
November 10, 2025 at 2:25 PM
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
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social
Reposted by Fritz Sedlazeck
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...
🧬 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.
www.nature.com
November 12, 2025 at 11:09 PM
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...
🧬 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
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social
November 10, 2025 at 2:25 PM
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
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 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!
November 10, 2025 at 2:12 PM
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 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!
Reposted by Fritz Sedlazeck
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
www.physalia-courses.org/courses-work...
#Bioinformatics #Genomics
November 5, 2025 at 6:10 PM
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
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 $$ & high cov: 76% solve rate across 13 trios inc. two corrections from prev. diagnosis. www.medrxiv.org/content/10.1...
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
October 27, 2025 at 1:05 PM
Trio-barcoded @nanoporetech.com Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & 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
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
Reposted by Fritz Sedlazeck
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...
@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...
October 24, 2025 at 7:03 PM
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...
@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...
Reposted by Fritz Sedlazeck
Working with @sedlazeck.bsky.social and his group on exploring the utility of Constellation has been amazing. So happy to see this preprint out!
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...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
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...
www.medrxiv.org
October 21, 2025 at 1:12 PM
Working with @sedlazeck.bsky.social and his group on exploring the utility of Constellation has been amazing. So happy to see this preprint out!
Reposted by Fritz Sedlazeck
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...
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
www.physalia-courses.org
October 22, 2025 at 3:53 PM
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...
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...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
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...
www.medrxiv.org
October 20, 2025 at 1:40 PM
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...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Reposted by Fritz Sedlazeck
Read the preprint here with all the details, plus lots of other long-read powered analysis! 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...
www.medrxiv.org
October 14, 2025 at 5:40 PM
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 :)
Now on the way to @geneticssociety.bsky.social meeting with 5 people from my group. Say hi if you see us :)
October 13, 2025 at 11:05 AM
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 :)
Now on the way to @geneticssociety.bsky.social meeting with 5 people from my group. Say hi if you see us :)
Reposted by Fritz Sedlazeck
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
#RareDisease #Research
September 19, 2025 at 9:15 PM
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
#RareDisease #Research
Reposted by Fritz Sedlazeck
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 !
@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 !
August 27, 2025 at 1:13 PM
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 !
@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.....
September 3, 2025 at 11:48 AM
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 !
@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 !
August 27, 2025 at 1:13 PM
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 !
@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 !
They are all fine but what an evening.. That will go straight into family stories. :) Hope everyone else is also just fine !
July 30, 2025 at 12:09 PM
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 !
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
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
July 17, 2025 at 11:46 AM
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
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
Reposted by Fritz Sedlazeck
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.
June 26, 2025 at 9:02 PM
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.
Reposted by Fritz Sedlazeck
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!
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!
May 15, 2025 at 12:19 PM
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!
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!
Reposted by Fritz Sedlazeck
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!
@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!
May 14, 2025 at 12:00 PM
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!
@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!
Reposted by Fritz Sedlazeck
🧬 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...
🗓 1–3 Dec | Learn to detect, filter & compare SVs from short/long reads @nanoporetech.com @pacbio.bsky.social 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
www.physalia-courses.org
June 17, 2025 at 2:43 PM
🧬 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...
🗓 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!
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!
May 15, 2025 at 12:19 PM
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!
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!
@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!
May 14, 2025 at 12:00 PM
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!
@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!