Tobias Marschall

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...

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.🧬🧪

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.

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. 👇🧬🧪

[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

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!

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

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.

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.

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

🧬 & 🖥️
📢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...

🚨 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
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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