Genome Data Science

🧪 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 👉 https://shorturl.at/JbqIk

30.09.2025 09:03 — 👍 10    🔁 3    💬 0    📌 0

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

28.09.2025 18:53 — 👍 3    🔁 1    💬 1    📌 0

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...

🧬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....

03.07.2025 13:56 — 👍 1    🔁 0    💬 0    📌 0

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✅

03.07.2025 13:56 — 👍 1    🔁 0    💬 1    📌 0

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11.05.2025 07:10 — 👍 1    🔁 0    💬 0    📌 0