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Genome Data Science

@genomedatalab.bsky.social
21 followers 10 following 3 posts

Computational biology @UCPH_Research/@IRBBarcelona: genetics & evolution of tumors & human populations. #ERC, #HorizonEU, #NNF, #DCS, #DFF funded. PI @fransupek.bsky.social Our webpage www.genomedatalab.org

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Reposted by Genome Data Science
IRB Barcelona @irbbarcelona.org · 30/09/2025
🧪 A new study led by #IRBBarcelona researchers @fransupek.bsky.social & @guillepalou.bsky.social reveals that the efficiency of the Nonsense-Mediated mRNA Decay (NMD) pathway—a key genetic quality control mechanism—varies across human tissues and individuals. More here 👉 shorturl.at/JbqIk
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Reposted by Genome Data Science
Fran Supek @fransupek.bsky.social · 28/09/2025
Fantastic to be in such great company!🤩 👏Congrats to 19 colleagues from my institutions (🇩🇰BRIC @UCPH_health and 🇪🇸@IRBBarcelona) in this year's Elsevier/Stanford top 2% most cited researchers list
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Genome Data Science @genomedatalab.bsky.social · 03/07/2025
🧬Indels drive the separation into m-SBS3a & SBS3b HRd signatures Only SBS3b strongly predicts survival in ovarian cancer patients, exceeding other genetic markers ➕utility of MMRd signatures also improved with indel+SNV joint inference Read more: 👇 genomemedicine.biomedcentral.com/articles/10....
genomemedicine.biomedcentral.com
Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies - Genome Medicine
Background Mutational signatures are increasingly used to understand the mechanisms causing cancer. However, their important applications in predicting prognosis and stratifying patients for therapy a...
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Genome Data Science @genomedatalab.bsky.social · 03/07/2025
Paper by our Patricia Ferrer feat. Ivan GF is now out in Genome Medicine! 🧩HR-deficiency mutational signature SBS3 decomposes into at least 2 signatures when analysed in a multi-modal manner (indel+SNV jointly) As WGS gets widely available, good to include indels in mutsig analyses✅
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Genome Data Science @genomedatalab.bsky.social · 11/05/2025
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