Computational biology @UCPH_Research/@IRBBarcelona: genetics & evolution of tumors & human populations. #ERC, #HorizonEU, #NNF, #DCS, #DFF funded. PI @FranSupek

Copenhagen & Barcelona
Joined June 2017
Congrats to our CRISPy fresh doctor 👏👏 Marcel McCullough for successfully defending his PhD thesis: 🧬✂️Combinatorial Gene Editing in Human Cells to Model Deficiencies of DNA Repair in Cancer Thx to committee members @CeronLab @LValleResearch and @DSzuts for great discussion!
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Double PhD defense day in the lab 🤩 Congrats to our dr. Guille Palou @gpaloumarquez, fresh from the oven 🎊🥳 and similarly so our newly-minted dr. Ignasi Toledano @IgnasiToledano! Amazing defense both, bravo 👏👏
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The youngsters from lab are at @EMBLEvents DNA Replication symposium #EESreplication 🧬 Our alumna dr. Marina @msalvadoresf and PhD Marcell @MarcellVeiner gave talks on their recent work 👏-- identifying DNA replication origins by mutation patterns and neural nets🤖
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📃"Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of homologous recombination deficiency in tumors" 🔗researchsquare.com/article/r… (3/3)
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This "multimodal" approach extracts a cleaner SBS3, a tricky but important mut sig ➡️splits into SBS3a and SBS3b, based on indels ➡️cleaner link w/ BRCA2 variants ➡️strongly predicts survival in 4 cohorts of ovarian cancer (incl @deciderproject) (2/3) 👇Check out our preprint:
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❓Want to learn an easy trick to improve your mutational signatures? ‼️Extract them from SNV and indel mutations jointly! A study by our Patricia F. @pferrert now online, focusing on HR deficiency signature SBS3🧬 Here is a TL;DR for you 👇 (1/3)
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.@FranSupek presented Marina's @msalvadoresf study on large-scale mutation risk in cancer genomes ➡️nature.com/articles/s43018-0… at the Nobel Minisymposium No. 60 "Somatic mutation in aging" in Stockholm. Thanks to organizers for inviting! – at Stockholm, Sweden
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First 3 doctoral theses #PhDone from our GenomeDataLab, and all 3 receiving the "cum laude" qualification! 🎊 👏👏👏 to David @davidmasp, Elizaveta B. and Marina @msalvadoresf, the 3 genomics musketeers! You rock! – at Barcelona, Spain
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🔥🔥BRIC group leader positions (incl associate professorship or full professorship at @UCPH_Research, a leading 🇪🇺 uni) - broad search - interests: stem cell, neuro, cancer - core funded position - top-notch science - collaborative workplace Join us! ➡️tinyurl.com/BRICgroupleader
📢assoc prof & full professor positions! We at the BRIC @UCPH_BRIC -- a premier biomedical research centre in Denmark -- are recruiting new Group Leaders ✅vibrant environment ✅great colleagues ✅🔝 funding ecosystem ✅quality of life in Cph Join us!➡️ candidate.hr-manager.net/App…
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📜4/4 The David @davidmasp preprint Mutation rate heterogeneity at the sub-gene scale due to local DNA hypomethylation. biorxiv.org/content/10.1101/… ~fin~
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📜3/4 The Marina @msalvadoresf preprint: Cell cycle alterations associate with a redistribution of mutation rates across chromosomal domains in human cancers. biorxiv.org/content/10.1101/…
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📜2/4 The Ignasi @IgnasiToledano preprint: Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules. biorxiv.org/content/10.1101/…
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Some cool hallucinations by the new 🤖DALL-E 3, inspired by biorxiv preprints from the lab: 📜1/4. The Liza preprint: Copy number losses of oncogenes and gains of tumor suppressor genes generate common driver events of human cancer. biorxiv.org/content/10.1101/…
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🍕GenomePizzaLab! Cheers Javi @jlanillos! – at Barcelona, Spain
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👩‍🔬By focusing the analysis on somatic CNA two-hit events, we can identify more driver genes relevant to a specific tumor type. Similarly so by focussing on known 🔥hotspot mutations. This could lead to more targeted & effective treatments for patients. #PrecisionMedicine
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😱Surprisingly, CNA gains in tumor suppressor genes also boost positive selection. (mutant allele gets amplifed⬆️⬆️) 🧬Thus two-hit events involving point mutations & CNA can universally "upgrade" #cancer driver genes, regardless of the type of copy number variant.
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🤯We show increased positive selection on oncogene mutations with both CNA gains and however similarly so with CNA deletions! ✂️Removing the wild-type OG allele benefits the tumor. This extends conventional understanding of how 🧬CNAs influence cancer evolution. #Genomics
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We have delved into the complex world of genetic #interactions, particularly what happens when point mutations & copy number alterations (CNAs) affect the same gene. Somatic CNAs are very common and so such 2⃣ "two-hit" events are important for understanding tumorigenesis.
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✂️🧬Aleix @aleixbayona presents his (combinatorial!) gene editing study on DNA repair genes using CRISPR/Cas12 🧫 We model mutational processes (incl from chemotherapy💊) in ovarian+lung cancer cells #ismbeccb2023 – at Lyon, France
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