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Tobias Marschall

@tobiasmar.bsky.social

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

3 Posts127 Follower50 Folgt
@danydoerr.bsky.social · 2mo ago

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

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...

nature.com

Giulio Ermanno Pibiri@jermp.bsky.social · last yr.

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...

biorxiv.org

Simon Fisher@profsimonfisher.bsky.social · last yr.

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...

nature.com

Simon Fisher@profsimonfisher.bsky.social · last yr.

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.

nature.com

Christine Beck@christinebeck.bsky.social · last yr.

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@jax.org · last yr.

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. 🧪🧬🔬

Tobias Marschall@tobiasmar.bsky.social · last yr.

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&nbsp;diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

tinyurl.com