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Tobias Marschall

@tobiasmar.bsky.social

92 followers 39 following 2 posts

Bioinformatics and Computational Genomics at @HHU.de. Algorithms for pangenomes, structural variation, genome assembly, haplotype phasing, etc.

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Tobias Marschall @tobiasmar.bsky.social · Jul 23

Two papers in today's issue of @nature.com ‬: 1) we assemble 65 genomes to near completion, including centromeres and the MHC. tinyurl.com/3huhax6w. 2) we sequence 1,019 genomes from the 1kGP with long reads, revealing SVs down to low allele frequencies tinyurl.com/wbx3we9x.

Complex genetic variation in nearly complete human genomes - Nature

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

tinyurl.com

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Reposted by Tobias Marschall

Giulio Ermanno Pibiri @jermp.bsky.social · Aug 28

Wow, more than 2.4M of assembled bacteria in the new release of ABT! We plan to index these using our efficient colored De Bruijn graph index, Fulgor. We recently conducted experiments with nearly 1M genomes…getting there :)
www.biorxiv.org/content/10.1...

AllTheBacteria - all bacterial genomes assembled, available and searchable

The bacterial sequence data publicly available via the global DNA archives is a vast potential source of information on the evolution of bacteria. However, most of this sequence data is unassembled, o...

www.biorxiv.org

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Reposted by Tobias Marschall

Simon Fisher @profsimonfisher.bsky.social · Jul 24

Another taste of the future of human genetics, also in @nature.com. Long-read sequencing in >1,000 humans across 26 populations shows how the approach can accelerate biological & medical research. Work led by @bernardo-rodriguez.bsky.social @trausch.bsky.social @tobiasmar.bsky.social & Jan Korbel.🧬🧪

Structural variation in 1,019 diverse humans based on long-read sequencing - Nature

Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural varia...

www.nature.com

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Reposted by Tobias Marschall

Simon Fisher @profsimonfisher.bsky.social · Jul 23

Telomere-to-telomere DNA sequencing is set to transform the field of human genetics in coming years. For a flavour of what's coming, see this exciting work on nearly complete genomes of 65 individuals from diverse populations, out today in @nature.com by @glennislogsdon.bsky.social & colleagues. 👇🧬🧪

Complex genetic variation in nearly complete human genomes - Nature

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

www.nature.com

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Reposted by Tobias Marschall

Samarendra Pani @samarendra-pani.bsky.social · Jul 24

[1/8] *New Open-Access Long Read Resource*. We sequenced 1,019 genomes from the 1000 Genomes Project sample cohort using @nanoporetech.com long-read sequencing (LRS) to median 17x coverage. Publication at go.nature.com/4ffPb8f.

@hhu.de @crg.eu @embl.org @impvienna.bsky.social

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Reposted by Tobias Marschall

Christine Beck @christinebeck.bsky.social · Jul 24

Lovely write up on our paper from @jacksonlab.bsky.social. It's been <4 years since I joined the HGSVC, and together with Peter Audano and Parithi Balachandran in my lab, @tobiasmar.bsky.social, @glennislogsdon.bsky.social, and many others, we've done a lot. Here's to great collaborators!

The Jackson Laboratory @jacksonlab.bsky.social · Jul 23

New research, published today in @natureportfolio.nature.com, decodes the most elusive, difficult-to-sequence regions of the genome from populations around the world, rewriting knowledge of human biology and setting a new benchmark for precision medicine. 🧪🧬🔬

The most complete view of the human genome yet sets new standard for use in precision medicine

What if scientists unlocked the most hidden, hardest-to-read regions of our DNA?

www.jax.org

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Tobias Marschall @tobiasmar.bsky.social · Jul 23

I will talk about those papers in my Hitseq keynote tomorrow at #ISMBECCB2025, so if you are in Liverpool don't miss it.

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Tobias Marschall @tobiasmar.bsky.social · Jul 23

Complex genetic variation in nearly complete human genomes - Nature

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

tinyurl.com

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Reposted by Tobias Marschall

Rob Patro @robp.bsky.social · Jul 23

🖥️🧬 Now, Zahra is talking about oarfish, for your long read RNA-seq quantification needs!
github.com/COMBINE-lab/...

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Reposted by Tobias Marschall

German Conference on Bioinformatics #GCB2025 @gcb-bioinformatics.bsky.social · Jun 2

🧬 & 🖥️
📢Call for Posters #GCB2025 | Join the #bioinformatics and #computationalbiology community at the German Conference on Bioinformatics! Submit your poster now!
Important Deadlines:
📌 Early Bird Registration: 5 July 25
📌 Poster Submission: 7 August 25
🔗 gcb2025.de/GCB2025_call...

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Reposted by Tobias Marschall

MDC-BIMSB @mdc-bimsb.bsky.social · Mar 27

🚨 Registration is OPEN for the 18th Berlin Summer Meeting – Sequencing Planet Earth!
📍 MDC-BIMSB @mdc-berlin.bsky.social
🗓️ June 19–20, 2025

🔗 mdc-berlin.de/BSM2025
#BSM2025 #mdcBerlin #SystemsBiology #Genomics #DataScience
(1/5)

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Reposted by Tobias Marschall

German Conference on Bioinformatics #GCB2025 @gcb-bioinformatics.bsky.social · Feb 3

Submit your abstracts from all areas of #bioinformatics and #computationalbiology for the German Conference on Bioinformatics - #GCB2025 at University of Dusseldorf from 22 - 24 September 2025!
abstract submission: gcb2025.de
@denbi.bsky.social @openbio.bsky.social @SIB.mstdn.science.ap.brid.gy

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