Bioinformatics PhD student at @GenomeDataLab (IRB Barcelona) 🧬
Joined December 2022
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Patricia Ferrer Torres retweeted
🛑Guille's @gpaloumarquez no-nonsense 😉paper is out in @GenomeBiology!
We report variable activity of the NMD pathway (mRNA QC) across tissues & individuals:
🧠less active in the nervous system & in reproductive tissues
🩸more active in digestive tract, muscle, blood
Patricia Ferrer Torres retweeted
🧬asymmetry in the cancer transcriptome?
A new preprint by @gpaloumarquez and Pere P from the lab has dropped on biorxiv
TLDR: in tumors, allele-specific expression (imbalance between 👩💼maternal and 👨🔧paternal allele in mRNA levels) is commonly seen in cancer genes...
(1/2)
Patricia Ferrer Torres retweeted
New pre-print out! 👨🔬
🔗biorxiv.org/content/10.1101/…
Here, we studied the incidence and impact of allele-specific expression (ASE; imbalance between two alleles in mRNA levels ⚖️) in tumorigenesis.
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Patricia Ferrer Torres retweeted
❓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)
Very excited to have my first preprint published! 🥳
Thanks to @FranSupek and our lab @GenomeDataLab 🧬
❓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)
Patricia Ferrer Torres retweeted
🚀 Just published on bioRxiv!
🔍DiffInvex evolutionary model for conditional somatic selection✅
🧬A genomic study of 10,000 cancer whole genomes identifying chemoresistant genes (putative therapeutic targets)✅
👨💻DiffInvex soon on GitHub⌛️
📄: biorxiv.org/content/10.1101/…
(1/7) ⬇️
Patricia Ferrer Torres retweeted
☃️David's paper about mutational coldspots in the human genome is now out in @NAR_Open!
Read the latest and greatest version here:
academic.oup.com/nar/advance…
Final bit of @davidmasp awesome thesis🎓is on biorxiv 👇 We studied gradients in 🧬mutation risk in 🧍genes:
❄️genes often have mutation coldspots at 5' ends
❄couple kb wide, but varies a lot btwn genes
❄due to locally lowered DNA methylation
❄️for some mutagens🥶->🥵(APOBEC!)
ALT A metaphor for mutational coldspots, regions in genes which have lower mutation risk. Graphic shows an illustration of DNA double helix, with snowflakes in the background. DALL-E generated image.
Patricia Ferrer Torres retweeted
Very nice News&Views in @NatureCancer by Xiaoju Hu & Subhajyoti De, covering our Salvadores et al. study on🧬chromatin remodelling and⚡️mutation risk in cancer.
👇
nature.com/articles/s43018-0…
Patricia Ferrer Torres retweeted
Excited to share my PhD journey exploring NMD efficiency's variability across tumors, tissues and individuals.
Link:
biorxiv.org/content/10.1101/…
A big thank you to @FranSupek and the awesome lab @GenomeDataLab at @IRBBarcelona
1/7🧵👇
Patricia Ferrer Torres retweeted
🔥Marina's @msalvadoresf study on mutation risk redistribution now out in @NatureCancer
We think🤔: disruption in RB1, TP53, &/| higher cell proliferation➡️remodelling of heterochromatin, DNA replication time➡️large-scale changes in mut. accumulation➡️impact on disease genes
👇
🔍🧬#IRBBarcelona researchers discover unexpected patterns in mutation risks across individuals, uncovering 13 distinct genomic patterns.
✍️Dr @FranSupek & @msalvadoresf (@GenomeDataLab).
📰@NatureCancer
➡️bit.ly/3tVjxJT
📌DOI:10.1038/S43018-023-00707-8
#IRBScience
Patricia Ferrer Torres retweeted
🛑Ignasi's massive mutagenesis study of stop codon readthrough:
5⃣8⃣0⃣0⃣ pathogenic stop codons tested
⚕️cancer + genetic disease
8x💊readthrough drugs
🧬drugs are v differently active depending on genetic context
💻genome-wide predictions!
collab @BenLehner + @GenomeDataLab 💪
Time to share my PhD work where we quantified the translational readthrough of thousands of pathogenic stop codons and trained predictive models to predict drug-induced readthrough of any stop codon. With the priceless guidance from @FranSupek +@BenLehner! biorxiv.org/content/10.1101/…
Patricia Ferrer Torres retweeted
🧬🔬 Excited to share our new research on #cancer evolution via copy number changes! Work by our👩🔬Dr. Liza Besedina:
📚 "Losses of oncogenes and gains of tumor suppressor genes generate common driver events of human cancer"
biorxiv.org/content/10.1101/…
👇
Patricia Ferrer Torres retweeted
We are at #ISMBECCB2023👋 Science & great fun in Lyon! Come say hi & see our posters 📃
