Davide Bolognini
@davidebolo93
Senior Bioinformatician @humantechnopole, Population & Medical Genomics Unit.
Our paper on the amylase locus is out in Nature (doi.org/10.1038/s41586…)! Working with this team was incredibly fun! We developed a computational framework (cosigt) to infer the haplotype composition of short read samples leveraging the pangenome graph. 1/n
Postdoc position opening in my group! Research projects: pangenomes for diverse organisms, genome evolution, biocomputing, language models. Please reach out if interested!
So excited that our team was awarded an #ERCAdG grant @ERC_Research this year. A testament to the brilliance, hard work and dedication of my present and past teams @humantechnopole @sangerinstitute @Cambridge_Uni. 🤩🤩
🧬 Ageing, immunity & chronic diseases: HT wins €2.5M @ERC_Research Advanced Grant for a 5-year project led by @nicolesoranzo. Using AI & big data, the group will decode how our immune system weakens over time. A huge step for precision medicine! humantechnopole.it/en/news/ageing…
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
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. (@davidebolo93) et al., Nature 2024 is now out. massilani-lab.com/new-publicatio…
🎙️ Per @TgrLeonardo, @nicolesoranzo 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…
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…
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 Not saying anything about their work but this info is way outdated
At #ASHG and interested in deep learning for disease prediction? Come visit @francescocist9 ‘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 @clintomics (UVA) on carotid plaque morphology and vulnerability at #ASHG24 😊
At #ASHG and interested in deep learning for disease prediction? Come visit @francescocist9 ‘s poster: imaging + transcriptomics to understand how carotid plaque morphology affects patients symptoms and MACE risk (board 4081T) #ASHG2024
PanGenome Graph Builder is a modular framework for efficiently building unbiased pangenome graphs, supporting diverse downstream analyses. @erikgarrison @AndresGuarahino nature.com/articles/s4159…
Very happy to share the first of many stories we've been working on here at @humantechnopole
At #ASHG and interested in deep learning for disease prediction? Come visit @francescocist9 ‘s poster: imaging + transcriptomics to understand how carotid plaque morphology affects patients symptoms and MACE risk (board 4081T) #ASHG2024
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
FindCSV: a long-read based method for detecting complex structural variations. #StructuralVariants #LongReads #DeepLearning #VariantCalling @BMCBioinfo bmcbioinformatics.biomedcentral.com/articles/10.11…
Long read @nanopore data from 1k genome project - analysed and also available for everyone to have fun with! search.app/cLvwtcVYwuVFpE…
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…
Are you curious to know how the most common human chromosomal translocations arise? Here we are!
The formation and propagation of human Robertsonian chromosomes biorxiv.org/cgi/content/sh… #biorxiv_genomic
SVbyEye: A visual tool to characterize structural variation among whole genome assemblies biorxiv.org/content/10.110…
Congrats @GaiaPigino and team 🔥
🔬 With advanced #CryoEM and mutational analysis, our @GaiaPigino Group reveal how protofilament-specific tubulin modifications regulate the binding of axonemal proteins, impacting ciliary motility. In @CurrentBiology humantechnopole.it/en/news/the-tu…
#agricoltura #genetica #evoluzione Le impronte dell’agricoltura nel genoma umano tinyurl.com/5n7z8j8y
Published today in @Nature, we describe an approach for single-molecule protein reading on @nanopore arrays. By utilizing ClpX unfoldase to ratchet proteins through a CsgG nanopore, we achieved single-amino-acid sensitivity. nature.com/articles/s4158…