Fritz Sedlazeck
@sedlazeck.bsky.social
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
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
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 :)
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 !
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
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!
How can you not trust this little guy with your Structural Variant needs? ;)
April 9, 2025 at 12:39 PM
How can you not trust this little guy with your Structural Variant needs? ;)
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
@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
April 3, 2025 at 4:01 PM
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
@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
nice sailing races over the past weekends.
January 27, 2025 at 6:00 PM
nice sailing races over the past weekends.
Our editorial quote: "Somewhere, something incredible is waiting to be known." hopefully summarizes nicely all the amazing work around long reads with new research, methods, reviews, resources summarized in this issue!
+ amazing LR Tshirt 😍
Hope you all enjoy reading it, because I for sure did.
+ amazing LR Tshirt 😍
Hope you all enjoy reading it, because I for sure did.
November 21, 2024 at 3:10 PM
Our editorial quote: "Somewhere, something incredible is waiting to be known." hopefully summarizes nicely all the amazing work around long reads with new research, methods, reviews, resources summarized in this issue!
+ amazing LR Tshirt 😍
Hope you all enjoy reading it, because I for sure did.
+ amazing LR Tshirt 😍
Hope you all enjoy reading it, because I for sure did.
Our special issue @genomeresearch.bsky.social is out on long-read sequencing (@pacbio.bsky.social & ONT): genome.cshlp.org/content/34/1...
Super excited about all the new work and special thanks to all the authors! Big thanks to Hillary @ahoischen.bsky.social @anaconesa.bsky.social
Super excited about all the new work and special thanks to all the authors! Big thanks to Hillary @ahoischen.bsky.social @anaconesa.bsky.social
November 21, 2024 at 3:10 PM
Our special issue @genomeresearch.bsky.social is out on long-read sequencing (@pacbio.bsky.social & ONT): genome.cshlp.org/content/34/1...
Super excited about all the new work and special thanks to all the authors! Big thanks to Hillary @ahoischen.bsky.social @anaconesa.bsky.social
Super excited about all the new work and special thanks to all the authors! Big thanks to Hillary @ahoischen.bsky.social @anaconesa.bsky.social
What mutations hides in our cells? We utilized Nanopore
for WGS single cell sequencing to find out with @proukakis.bsky.social ! Interesting transposon patterns + repeat recombinations! www.medrxiv.org/content/10.1...
Figs: SC deletion also present in bulk. Detection of SC vs. bulk SV
for WGS single cell sequencing to find out with @proukakis.bsky.social ! Interesting transposon patterns + repeat recombinations! www.medrxiv.org/content/10.1...
Figs: SC deletion also present in bulk. Detection of SC vs. bulk SV
November 19, 2024 at 2:39 PM
What mutations hides in our cells? We utilized Nanopore
for WGS single cell sequencing to find out with @proukakis.bsky.social ! Interesting transposon patterns + repeat recombinations! www.medrxiv.org/content/10.1...
Figs: SC deletion also present in bulk. Detection of SC vs. bulk SV
for WGS single cell sequencing to find out with @proukakis.bsky.social ! Interesting transposon patterns + repeat recombinations! www.medrxiv.org/content/10.1...
Figs: SC deletion also present in bulk. Detection of SC vs. bulk SV
I had my hopes to call it ClaiRR to make a pirate theme tool but Ruibang stayed professional... what can I say it all started with Margaritas in Houston :) haha
November 19, 2024 at 2:23 PM
I had my hopes to call it ClaiRR to make a pirate theme tool but Ruibang stayed professional... what can I say it all started with Margaritas in Houston :) haha
New method out for structural variants studies called Kanpig. Huge improvements on tandem repeat regions where 70% of sv are. Great new method from Adam English!
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
October 26, 2024 at 5:29 PM
New method out for structural variants studies called Kanpig. Huge improvements on tandem repeat regions where 70% of sv are. Great new method from Adam English!
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
A bit late.. but happy to be back from my 2 days offshore sailing race.. Got 2nd by 9 min corrected time difference to the 1st place. Amazing team effort! Couple of pics attached :)
Race was Harvestmoon from Galveston to Port Aransas
Race was Harvestmoon from Galveston to Port Aransas
October 25, 2024 at 1:39 PM
A bit late.. but happy to be back from my 2 days offshore sailing race.. Got 2nd by 9 min corrected time difference to the 1st place. Amazing team effort! Couple of pics attached :)
Race was Harvestmoon from Galveston to Port Aransas
Race was Harvestmoon from Galveston to Port Aransas
Excited about our LPA paper: link.springer.com/article/10.1...
Such an important & complicated gene to get right! We get it right :)
Even phasing information on the gene CNV that are related to Cardiovascular diseases! Discussion why certain clinical diagnostic SNP dont work in certain ethnicities
Such an important & complicated gene to get right! We get it right :)
Even phasing information on the gene CNV that are related to Cardiovascular diseases! Discussion why certain clinical diagnostic SNP dont work in certain ethnicities
October 25, 2024 at 1:36 PM
Excited about our LPA paper: link.springer.com/article/10.1...
Such an important & complicated gene to get right! We get it right :)
Even phasing information on the gene CNV that are related to Cardiovascular diseases! Discussion why certain clinical diagnostic SNP dont work in certain ethnicities
Such an important & complicated gene to get right! We get it right :)
Even phasing information on the gene CNV that are related to Cardiovascular diseases! Discussion why certain clinical diagnostic SNP dont work in certain ethnicities
Excited to get DRAGEN from Illumina out in Nature Biotechnology: www.nature.com/articles/s41...
Graph genome based detection of SNV, STR, SV, CNV all in 30 min! Improvements in all variants classes. Plus we worked on how to merge and combine variant classes making it easier to study them!
Graph genome based detection of SNV, STR, SV, CNV all in 30 min! Improvements in all variants classes. Plus we worked on how to merge and combine variant classes making it easier to study them!
October 25, 2024 at 1:34 PM
Excited to get DRAGEN from Illumina out in Nature Biotechnology: www.nature.com/articles/s41...
Graph genome based detection of SNV, STR, SV, CNV all in 30 min! Improvements in all variants classes. Plus we worked on how to merge and combine variant classes making it easier to study them!
Graph genome based detection of SNV, STR, SV, CNV all in 30 min! Improvements in all variants classes. Plus we worked on how to merge and combine variant classes making it easier to study them!
Now we even have a perfect flyer :)
July 3, 2024 at 12:03 PM
Now we even have a perfect flyer :)
Our 2023 hackathon report is now live
@ F1000 Journal : f1000research.com/articles/13-...
49 scientists from 14 countries worked on 6 bioinformatics prototypes from RNA to SV! Amazing open science & thanks to all of you!
Join us for our next hackathon (Aug 28-31) www.hgsc.bcm.edu/events/hacka...
@ F1000 Journal : f1000research.com/articles/13-...
49 scientists from 14 countries worked on 6 bioinformatics prototypes from RNA to SV! Amazing open science & thanks to all of you!
Join us for our next hackathon (Aug 28-31) www.hgsc.bcm.edu/events/hacka...
July 1, 2024 at 2:14 PM
Our 2023 hackathon report is now live
@ F1000 Journal : f1000research.com/articles/13-...
49 scientists from 14 countries worked on 6 bioinformatics prototypes from RNA to SV! Amazing open science & thanks to all of you!
Join us for our next hackathon (Aug 28-31) www.hgsc.bcm.edu/events/hacka...
@ F1000 Journal : f1000research.com/articles/13-...
49 scientists from 14 countries worked on 6 bioinformatics prototypes from RNA to SV! Amazing open science & thanks to all of you!
Join us for our next hackathon (Aug 28-31) www.hgsc.bcm.edu/events/hacka...
Mark your calendar for the next LR seminar: June 21st 10am CT focusing on Oxford Nanopore!
Register for free: hgsc.bcm.edu/LongReadSemi...
Fantastic talks with opportunities to discuss challenges and opportunities around LR sequencing! Many topics: #Genomics #microbiome
Register for free: hgsc.bcm.edu/LongReadSemi...
Fantastic talks with opportunities to discuss challenges and opportunities around LR sequencing! Many topics: #Genomics #microbiome
June 6, 2024 at 4:46 PM
Mark your calendar for the next LR seminar: June 21st 10am CT focusing on Oxford Nanopore!
Register for free: hgsc.bcm.edu/LongReadSemi...
Fantastic talks with opportunities to discuss challenges and opportunities around LR sequencing! Many topics: #Genomics #microbiome
Register for free: hgsc.bcm.edu/LongReadSemi...
Fantastic talks with opportunities to discuss challenges and opportunities around LR sequencing! Many topics: #Genomics #microbiome
Had a great lab retreat on Saturday at rice together with @svillapol.bsky.social and @treangen.bsky.social lab. Amazing talks, discussions and overlap of interests. Won't be the last one :)
April 29, 2024 at 1:45 PM
Had a great lab retreat on Saturday at rice together with @svillapol.bsky.social and @treangen.bsky.social lab. Amazing talks, discussions and overlap of interests. Won't be the last one :)
Was a brief and nice visit back in Europe ( Austria and Czech) .. -12c I am not used to that anymore :) now back to freezing USA ( at least I am trained now :) )
January 15, 2024 at 5:11 AM
Was a brief and nice visit back in Europe ( Austria and Czech) .. -12c I am not used to that anymore :) now back to freezing USA ( at least I am trained now :) )