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Reposted by Fritz Sedlazeck

GREGoR Consortium @gregor-research.bsky.social · 19d

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

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Fritz Sedlazeck @sedlazeck.bsky.social · 23d

#2025....

Reposted by Fritz Sedlazeck

Fritz Sedlazeck @sedlazeck.bsky.social · Aug 27

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 !

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Fritz Sedlazeck @sedlazeck.bsky.social · Sep 3

Our lecture hall reminds me at star wars... Not necessarily the good side.....

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Fritz Sedlazeck @sedlazeck.bsky.social · Aug 27

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 !

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Fritz Sedlazeck @sedlazeck.bsky.social · Jul 30

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 !

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Fritz Sedlazeck @sedlazeck.bsky.social · Jul 17

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

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Fritz Sedlazeck @sedlazeck.bsky.social · Jun 26

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.

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Fritz Sedlazeck @sedlazeck.bsky.social · Jun 26

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.

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Reposted by Fritz Sedlazeck

Fritz Sedlazeck @sedlazeck.bsky.social · May 15

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!

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Fritz Sedlazeck @sedlazeck.bsky.social · Jun 17

Come join us!

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Fritz Sedlazeck @sedlazeck.bsky.social · May 14

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!

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Fritz Sedlazeck @sedlazeck.bsky.social · Jun 17

Always great opportunity to discuss newest developments across short and long read sv calling and comparisons . Looking forward to this again !

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Physalia-courses@Online @physaliacourses.bsky.social · Jun 17

🧬 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...

Structural Variant detection and comparison

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

www.physalia-courses.org

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Fritz Sedlazeck @sedlazeck.bsky.social · May 15

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!

7 7

Fritz Sedlazeck @sedlazeck.bsky.social · May 14

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!

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Reposted by Fritz Sedlazeck

Christos Proukakis @proukakis.bsky.social · May 9

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

Reply to: Is Gauchian genotyping of GBA1 variants reliable? - Communications Biology

Communications Biology - Reply to: Is Gauchian genotyping of GBA1 variants reliable?

www.nature.com

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Medhat Mahmoud @medhat.bsky.social · May 5

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...
🧵👇

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Reposted by Fritz Sedlazeck

Fritz Sedlazeck @sedlazeck.bsky.social · Apr 24

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!

a cat is sitting in front of a laptop computer on a couch .

ALT: a cat is sitting in front of a laptop computer on a couch .

media.tenor.com

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Fritz Sedlazeck @sedlazeck.bsky.social · Apr 24

Will be great to work together on timely topics around complex variants, mosaic variants ( @smahtnetwrk.bsky.social ) , mendelian ( @gregor-research.bsky.social ) diseases and many more!

This is a hybrid event and we welcome participation from around the world from trainees to full professors.

Fritz Sedlazeck @sedlazeck.bsky.social · Apr 24

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!

a cat is sitting in front of a laptop computer on a couch .

ALT: a cat is sitting in front of a laptop computer on a couch .

media.tenor.com

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Reposted by Fritz Sedlazeck

Physalia-courses@Online @physaliacourses.bsky.social · Apr 16

🚨 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...

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Ana Conesa @anaconesa.bsky.social · Apr 14

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

Genome Research @genomeresearch.bsky.social · Apr 14

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!

Genome Research @genomeresearch.bsky.social · Apr 14

SPECIAL ISSUE Part 2! This month @genomeresearch.bsky.social publishes a diverse collection of articles offering novel biological and clinical insights gained using long-read DNA and RNA sequencing technologies and other long molecule approaches.
tinyurl.com/Genome-Res-3...

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Reposted by Fritz Sedlazeck

Genome Research @genomeresearch.bsky.social · Apr 14

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!

Genome Research @genomeresearch.bsky.social · Apr 14

SPECIAL ISSUE Part 2! This month @genomeresearch.bsky.social publishes a diverse collection of articles offering novel biological and clinical insights gained using long-read DNA and RNA sequencing technologies and other long molecule approaches.
tinyurl.com/Genome-Res-3...

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Fritz Sedlazeck @sedlazeck.bsky.social · Apr 11

The 6th iteration ! This workshop started a while ago and still proofs to be relevant. Very proud of keeping it up over the years and getting to know so many talented scientists that participate. Thank you all!

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