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Very happy to share the first of many stories we've been working on here at Human Technopole

Published today in nature, we describe an approach for single-molecule protein reading on Oxford Nanopore arrays. By utilizing ClpX unfoldase to ratchet proteins through a CsgG nanopore, we achieved single-amino-acid sensitivity. nature.com/articles/s4158…

#agricoltura #genetica #evoluzione Le impronte dell’agricoltura nel genoma umano tinyurl.com/5n7z8j8y

Congrats Gaia Pigino and team 🔥

SVbyEye: A visual tool to characterize structural variation among whole genome assemblies biorxiv.org/content/10.110…

Are you curious to know how the most common human chromosomal translocations arise? Here we are!

Published in 2009, bwa-aln is one of the oldest short-read aligners. It remains a popular choice for aligning ancient DNA reads. The following blog post explains the algorithmic reasons. lh3.github.io/2024/09/28/why…

Long read ⁦Oxford Nanopore⁩ data from 1k genome project - analysed and also available for everyone to have fun with! search.app/cLvwtcVYwuVFpE…

FindCSV: a long-read based method for detecting complex structural variations. #StructuralVariants #LongReads #DeepLearning #VariantCalling @BMCBioinfo bmcbioinformatics.biomedcentral.com/articles/10.11…

Achieving good performance from a machine learning method usually requires theoretical and practical knowledge of both machine learning methodology and the particular research application area. See our Reviews #Collection on: Machine learning in genomics go.nature.com/4gR5SHm

PanGenome Graph Builder is a modular framework for efficiently building unbiased pangenome graphs, supporting diverse downstream analyses. Erik Garrison Andrea Guarracino nature.com/articles/s4159…

At #ASHG and interested in deep learning for disease prediction? Come visit Francesco Cisternino ‘s poster: imaging + transcriptomics to understand how carotid plaque morphology affects patients symptoms and MACE risk (board 4081T) #ASHG2024

Thank you Sara! Happy to finally present the work we’ve been doing with the labs of Sander van deer Laan (UMC Utrecht) and Clint Miller (UVA) on carotid plaque morphology and vulnerability at #ASHG24 😊

Surprised to see that misconceptions about long reads are still around. Maybe I'm living in a bubble.. This from a new paper: nature.com/articles/s4155…. Not saying anything about their work but this info is way outdated

Release of DeepVariant 1.8. Large speed improvement (~67% faster) via small model for easy sites. New Pangenome-aware option. Reduces error by ~30% for vg-mapped WGS ~10% for BWA WGS ~5% BWA exome. New config for custom model users, see release notes 1/3 github.com/google/deepvar…

🎙️ Per Tgr Leonardo, Nicole Soranzo racconta il progetto Genome of Europe, il più grande progetto genomico finanziato dall'UE, per promuovere prevenzione e cure personalizzate. (da min 11.20) rainews.it/tgr/rubriche/l…

Our Cell Genomics preview “Double or Nothing – Ancient Duplications in the Amylase Locus Drove Human Adaptation” covering Yilmaz F. (Feyza Yilmaz) et al., Science 2024 and Bolognini D. (Davide Bolognini) et al., Nature 2024 is now out. massilani-lab.com/new-publicatio…

Want to level up in #pangenomics? Join our workshop, conference & biohackathon in #Memphis, May 11-15, 2025. Connect with leading scientists, embrace genomic diversity, and contribute to cutting-edge software. Register now! pangenome.github.io/MemPanG25/ #Bioinformatics #MemPanG25

So excited that our team was awarded an #ERCAdG grant European Research Council (ERC) this year. A testament to the brilliance, hard work and dedication of my present and past teams Human Technopole Wellcome Sanger Institute Cambridge University. 🤩🤩

Postdoc position opening in my group! Research projects: pangenomes for diverse organisms, genome evolution, biocomputing, language models. Please reach out if interested!