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Tobias Marschall

@tobiasmar.bsky.social
129 followers 50 following 3 posts

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

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Reposted by Tobias Marschall
danydoerr.bsky.social @danydoerr.bsky.social · 16/07/2026
New Nature Reviews Genetics paper out! How are graph-based pangenomes removing reference bias and opening up new possibilities in GWAS and rare- and common disease genetics? 🔗 nature.com/articles/s41576-026-00987-7 #pangenome #geneticdiversity #referencebias
nature.com
Building and applying pangenome references to capture genetic diversity - Nature Reviews Genetics
Pangenomes are genome references that integrate sequences from multiple individuals into graph-based or multi-haplotype representations, capturing genetic variation beyond a single linear reference. H...
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Reposted by Tobias Marschall
Adam Phillippy @aphillippy.bsky.social · 20/04/2026
Friday was my last day at NHGRI. After 10 wonderful years, my lab is headed to Johns Hopkins University genomeinformatics.github.io/movingday/
genomeinformatics.github.io
We're moving!
Friday was my last day at NHGRI. After 10 wonderful years, my lab is headed one hour north on I-95 to set up shop at Johns Hopkins University. This is a very bittersweet move for me, as NHGRI has prov...
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Reposted by Tobias Marschall
Wolfram Höps @wolfram-hops.bsky.social · 06/03/2026
🔄 Inversions predispose to recurrent deletions and duplications in chromsome 15q13.3. 🔁 Using de-novo assemblies of 10 patient-parent trios, we investigated how recurrent copy-number variants (CNVs) in the 15q13.3 locus arise. www.biorxiv.org/content/10.6... A brief tour (1/17)
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Reposted by Tobias Marschall
Adam Phillippy @aphillippy.bsky.social · 02/02/2026
Time for a thread on our Christmas preprint “Origin and evolution of acrocentric chromosomes in human and great apes”. I had so much fun with this project and paper. It will be hard to summarize in a thread, but I’ll try www.biorxiv.org/content/10.6... [1/21]
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Reposted by Tobias Marschall
Glennis Logsdon @glennislogsdon.bsky.social · 16/12/2025
Absolutely thrilled to share the latest work from my lab focused on the variation and evolution of human centromeres among global populations! We assembled 2,110 human centromeres, identifying 226 new major haplotypes and 1,870 α-satellite HOR variants. www.biorxiv.org/content/10.6...
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Reposted by Tobias Marschall
Giulio Ermanno Pibiri @jermp.bsky.social · 28/08/2025
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...
biorxiv.org
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...
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Reposted by Tobias Marschall
Simon Fisher @profsimonfisher.bsky.social · 24/07/2025
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.🧬🧪
nature.com
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...
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Reposted by Tobias Marschall
Simon Fisher @profsimonfisher.bsky.social · 23/07/2025
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. 👇🧬🧪
nature.com
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.
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Reposted by Tobias Marschall
Samarendra Pani @samarendra-pani.bsky.social · 24/07/2025
[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 · 24/07/2025
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!
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Tobias Marschall @tobiasmar.bsky.social · 23/07/2025
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.
tinyurl.com
Complex genetic variation in nearly complete human genomes - Nature
Using sequencing and haplotype-resolved assembly of 65&nbsp;diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.
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Reposted by Tobias Marschall
Rob Patro @robp.bsky.social · 23/07/2025
🖥️🧬 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 #GCB2026 @gcb-bioinformatics.bsky.social · 02/06/2025
🧬 & 🖥️ 📢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 · 27/03/2025
🚨 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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German Conference on Bioinformatics #GCB2026 @gcb-bioinformatics.bsky.social · 03/02/2025
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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