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Simone Rubinacci

@srubinacci

Group leader in Statistical Genomics @fimm-uh.bsky.social Lab website: https://compstatgenlab.github.io/

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Posts 05.03.2025
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Latest posts by Simone Rubinacci @srubinacci

Nice to see this out! Great work by Kiran Kumar and Sebastian Zöllner!

09.03.2026 19:59 👍 2 🔁 1 💬 0 📌 0
From DNA microarrays to somatic mosaicism in population cohorts Nature Reviews Genetics, Published online: 24 February 2026; doi:10.1038/s41576-026-00948-0Chikashi Terao recalls a paper by Loh et al., which introduced a highly sensitive algorithm to detect low-fraction chromosomal mosaicism from SNP array data, enabling large-scale mapping of clonal haematopoiesis.

New online! From DNA microarrays to somatic mosaicism in population cohorts

25.02.2026 11:45 👍 5 🔁 1 💬 0 📌 0
Portrait of Simone Rubinacci, PhD, smiling and seated, wearing a black top. Blue background. To the right is a quote: "What makes FIMM special is how seamlessly everything is integrated. Biologists, clinicians, and data scientists work closely together, not just in theory but in practice. On top of that, access to large-scale national data enables us to ask questions that simply couldn’t be explored elsewhere." Below the quote: Simone Rubinacci, PhD FIMM-EMBL Group Leader since 2024 Logos of the University of Helsinki and FIMM are at the top right.

Portrait of Simone Rubinacci, PhD, smiling and seated, wearing a black top. Blue background. To the right is a quote: "What makes FIMM special is how seamlessly everything is integrated. Biologists, clinicians, and data scientists work closely together, not just in theory but in practice. On top of that, access to large-scale national data enables us to ask questions that simply couldn’t be explored elsewhere." Below the quote: Simone Rubinacci, PhD FIMM-EMBL Group Leader since 2024 Logos of the University of Helsinki and FIMM are at the top right.

We are recruiting 1-2 early-stage Group Leaders in Data Science and AI for Molecular & Health Data!
If you dream of analysing population-scale datasets with cutting-edge tech, Finland is calling!
Apply here by 15 March:
jobs.helsinki.fi/job/Helsinki...
@helsinki.fi @hilife-helsinki.bsky.social

18.02.2026 11:52 👍 3 🔁 4 💬 0 📌 0

Cool, but looking at the results, it does not actually seem better than others: going from KGP phase 1 to 3, the compres. ratio improves by 2.4x, while others, e.g. XSI improves by 6.4x.
Need a benchmark on large-scale WGS data (I tried, out of curiosity, but I gave up as it requires too much RAM)

22.12.2025 13:22 👍 3 🔁 0 💬 0 📌 0
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🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...

Highlights below!

06.08.2025 18:27 👍 117 🔁 55 💬 2 📌 5

MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes https://www.biorxiv.org/content/10.1101/2025.06.24.660721v1

25.06.2025 06:34 👍 2 🔁 1 💬 0 📌 1