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Steve Thorn

@drthorn.bsky.social
798 followers 1.2K following 13 posts

Computational cancer biology. #bioinformatics, #CancerGenomics. Interested in subtypes of #ColorectalCancer and chromosomal instability @oncology.ox.ac.uk 🧬 Previously @uoe-igc.bsky.social @roslininstitute.bsky.social @ESA.int @CERN.bsky.social 🏴󠁧󠁢󠁳󠁣󠁴󠁿🇪🇺 he/him

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Reposted by Steve Thorn
bioRxiv Bioinfo @biorxiv-bioinfo.bsky.social · 29/09/2026
Complete timing of copy-number amplification histories reveals whole-genome duplication dynamics and coincident oncogene amplification bursts www.biorxiv.org/content/10.64898/20…
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Reposted by Steve Thorn
Wendy Bickmore @wbickmor.bsky.social · 29/09/2026
Very interesting paper. These <10kb "protrusions" remind me, albeit at a different length scale, of the "looping out" of active regions from chromosome territories. www.sciencedirect.com/science/arti...
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Reposted by Steve Thorn
Nature Reviews Genetics @natrevgenet.nature.com · 28/09/2026
New online! Chromosomal chaos surrenders to logic
dlvr.it
Chromosomal chaos surrenders to logic
Nature Reviews Genetics, Published online: 28 September 2026; doi:10.1038/s41576-026-01022-5In this Journal Club, Kamila Naxerova reflects on two landmark studies by Knouse et al. and Davoli et al. that helped explain how disrupted epithelial tissue architecture promotes aneuploidy and why particular patterns of chromosome gain and loss recur across cancers.
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Reposted by Steve Thorn
Nature Biotechnology @natbiotech.nature.com · 28/09/2026
Scientists uncover thousands of previously missed proteins, many of which appear to be relevant to human health — including promising new targets for cancer immunotherapies www.nature.com/articles/s41... rdcu.be/kUYzGHZ13eea
nature.com
Startups mine ‘dark proteome’ for new drug targets - Nature Biotechnology
Scientists uncover thousands of previously missed proteins, many of which appear to be relevant to human health — including promising new targets for cancer immunotherapies.
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Steve Thorn @drthorn.bsky.social · 28/09/2026
Would thoroughly recommend @paper-feed.bsky.social. Makes it super easy to stay up-to-date with papers posted by people you follow.
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Reposted by Steve Thorn
Loïc A. Royer 💻🔬🧪 @loicaroyer.bsky.social · 23/09/2026
What if any dataset, any size, any number of dimensions, opened in a browser tab from a link? 🔬🧪💻 Luxar is out today: write it in Python, share it as a link, explore it in any browser. Open source. 🧵 @biohub.org Preprint: doi.org/10.5281/zen... Code: github.com/royerlab/luxar
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Kazuhiro Maeshima @kazu-maeshima.bsky.social · 18/09/2026
🧬 Our “Behind the Paper” is now online at Nature Communities: “Active chromatin is not simply open—it forms compact domains that cohesin keeps from mixing.” 📖 A short story behind our recent @natgenet.nature.com paper. communities.springernature.com/posts/active... www.nature.com/articles/s41...
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Reposted by Steve Thorn
BF Francis Ouellette @bffo.bsky.social · 16/09/2026
From @plos.org #Computational #Biology | Ten quick tips for spatial transcriptomics analysis | #Bioinformatics #Education #PLOSCBQT #Histology #Genomics #Transcriptomics #OpenScience | 🧬🖥️🧪🔓 ⬇️ journals.plos.org/ploscompbiol...
journals.plos.org
Ten quick tips for spatial transcriptomics analysis
Author summary Spatial transcriptomics (ST) lets researchers measure gene expression while preserving the tissue location of each measurement. Where a cell sits, and which cells surround it, shape how...
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Reposted by Steve Thorn
Nature Reviews Cancer @natrevcancer.nature.com · 15/09/2026
dlvr.it
Viral mimicry escape as a necessary feature of malignant transformation
Nature Reviews Cancer, Published online: 15 September 2026; doi:10.1038/s41568-026-00977-1Viral mimicry is the activation of antiviral immune responses by endogenous nucleic acids that have accumulated in the cytosol. In this Review, Chen et al. highlight how cancer-associated epigenetic and transcriptional dysregulation promotes the generation of immunogenic nucleic acids, which can limit tumour progression. They further outline the mechanisms tumours use to suppress these responses, and the evidence that escape from viral mimicry is central to tumour evolution and a potential target for therapy.
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Reposted by Steve Thorn
Philippe Batut @philippebatut.bsky.social · 10/09/2026
🧬🔬 Why are enhancers transcribed and how does that impact gene regulation? I’m really excited to share our new paper in @science.org showing that noncoding RNAs control the timing of gene activation in embryos. With Mike Levine #ScienceResearch @columbiamed.bsky.social A few highlights below... 🧵👇
science.org
Noncoding transcription controls the developmental dynamics of long-range gene regulation
The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely ...
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Reposted by Steve Thorn
Philip Ball @philipcball.bsky.social · 11/09/2026
I am rather delighted by this paper. So here’s a thread to tell you why, and why it matters. /1 www.science.org/doi/10.1126/...
science.org
Noncoding transcription controls the developmental dynamics of long-range gene regulation
The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely unknown. By using live imaging, we reveal that the ...
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Reposted by Steve Thorn
Ming Tommy Tang @tommytang.bsky.social · 10/09/2026
Mechanisms underlying disease-causing variants in promoters and enhancers www.nature.com/articles/s4...
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Reposted by Steve Thorn
Nozomu Yachie @nzmyachie.bsky.social · 04/09/2026
Maybe it’s time to say goodbye to UMAP and other low-dimensional embeddings (at least in many single-cell analyses). We developed MILK to encode single-cell populations into tree representations at unprecedented scales. www.biorxiv.org/content/10.6... Here’s what MILK is: 🧵
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Reposted by Steve Thorn
Ming Tommy Tang @tommytang.bsky.social · 05/09/2026
Toward generalizable and interpretable AI in regulatory genomics www.nature.com/articles/s4...
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Reposted by Steve Thorn
Inigo Martincorena @imartincorena.bsky.social · 03/09/2026
Big paper alert! This project has been years in the making. A comprehensive description of somatic mutation rates and signatures across 53 tissues or cell types using NanoSeq. A large collective effort led by Mimy Pham, Mike Stratton and @r-rahbari.bsky.social. www.biorxiv.org/content/10.6...
biorxiv.org
A comprehensive atlas of somatic mutation rates and mutational signatures in normal human cells
Over the course of a lifetime, somatic mutations accrue in normal human cells, causing variation in cell phenotype and engendering somatic evolution with outcomes ranging from the adaptive immune syst...
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Reposted by Steve Thorn
Nature Reviews Gastroenterology & Hepatology @natrevgastrohep.nature.com · 02/09/2026
ICYMI: New online! Long non-coding RNAs in colorectal cancer: shaping the tumour microenvironment and advancing precision oncology
dlvr.it
Long non-coding RNAs in colorectal cancer: shaping the tumour microenvironment and advancing precision oncology
Nature Reviews Gastroenterology & Hepatology, Published online: 01 September 2026; doi:10.1038/s41575-026-01243-3Long non-coding RNAs (lncRNAs) are emerging as key regulators in cancer progression, including colorectal cancer (CRC). This Review provides a mechanistic overview of the role of lncRNAs in the CRC microenvironment and discusses their potential in precision oncology.
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Reposted by Steve Thorn
Nature Reviews Gastroenterology & Hepatology @natrevgastrohep.nature.com · 01/09/2026
New online! Long non-coding RNAs in colorectal cancer: shaping the tumour microenvironment and advancing precision oncology
dlvr.it
Long non-coding RNAs in colorectal cancer: shaping the tumour microenvironment and advancing precision oncology
Nature Reviews Gastroenterology & Hepatology, Published online: 01 September 2026; doi:10.1038/s41575-026-01243-3Long non-coding RNAs (lncRNAs) are emerging as key regulators in cancer progression, including colorectal cancer (CRC). This Review provides a mechanistic overview of the role of lncRNAs in the CRC microenvironment and discusses their potential in precision oncology.
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Reposted by Steve Thorn
Stephen Turner @stephenturner.us · 31/08/2026
UVA School of Data Science Seminars, recorded & archived doi.org/10.59350/8rz...
doi.org
School of Data Science Seminars, Archived
From geometric intelligence to cardiac network models, recordings of talks from recent speakers at the UVA School of Data Science
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Reposted by Steve Thorn
Sean Bresnahan @seantbres.bsky.social · 31/08/2026
Our new preprint introduces ✨ICONIC✨: an R package making causal inference accessible for observational omics. It unifies genetic instruments (Mendelian randomization) and negative controls (proximal inference) for mediation analysis under unmeasured confounding. www.medrxiv.org/content/10.6...
medrxiv.org
ICONIC: An R Package for Integrating Instrumental Variable- and Negative-Control-Informed Causal Discovery and Diagnostics in Multiomic Studies
Unmeasured confounding threatens causal inference and replicability in observational multi-omic studies across variable environments. Genetic instrumental variables (Mendelian randomization) and negat...
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Reposted by Steve Thorn
Stella Hurtley @smhsci.bsky.social · 28/08/2026
Out now in @science.org Nonviral delivery of chemically modified tRNA rescues nonsense mutations in cystic fibrosis | Science www.science.org/doi/10.1126/...
science.org
Nonviral delivery of chemically modified tRNA rescues nonsense mutations in cystic fibrosis
Suppressor transfer RNAs (sup-tRNAs) can rescue disease-causing nonsense mutations by promoting readthrough of premature termination codons (PTCs). Their clinical translation is limited by suboptimal ...
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Reposted by Steve Thorn
Eric Topol @erictopol.bsky.social · 28/08/2026
We need to rev it up. Cancer vaccines. nature.com/articles/d41... @nature.com
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Reposted by Steve Thorn
Philip Ball @philipcball.bsky.social · 28/08/2026
This looks fascinating, and experimentally impressive. Maybe worth a reminder that it does not imply that the individual photons follow all paths at once. All QM permits us to say is that there is a chance of observing any given photon on any of them. www.science.org/doi/10.1126/...
science.org
Direct experimental test of Feynman’s path integral postulates with single photons
The experimental validation of fundamental thought experiments in quantum mechanics has profoundly advanced quantum science and technology while deepening our understanding of quantum mechanics. Howev...
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Reposted by Steve Thorn
bioRxiv Genomics @biorxiv-genomic.bsky.social · 27/08/2026
Scalable spatial DNA sequencing from archival tissue maps copy number subclones www.biorxiv.org/content/10.64898/20…
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Reposted by Steve Thorn
Jeffrey Townsend @jeffreytownsend.bsky.social · 27/08/2026
An exciting scientific collaboration 🧪 uncovered a gene–environment "collaboration" in colorectal cancer: an inherited MGMT variant predisposes tumors to alkylating DNA damage, red-meat intake amplifies it—and the damage it causes drives oncogenic KRAS mutations. #EvoDevo doi.org/10.1158/1055...
doi.org
Germline Predisposition to Oncogenic Alkylating Damage in Colorectal Cancer
AbstractBackground:. Red meat consumption is a risk factor for colorectal cancer and has been linked to tumor alkylating DNA damage. rs16906252-T is a cis expression quantitative trait locus variant a...
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Reposted by Steve Thorn
Nature Reviews Cancer @natrevcancer.nature.com · 25/08/2026
dlvr.it
Origins and consequences of oncogenic 3D chromatin remodelling
Nature Reviews Cancer, Published online: 25 August 2026; doi:10.1038/s41568-026-00969-1In this Review, Franceschini and colleagues discuss how remodelling of the 3D structure of chromatin in cancer is both a cause and a consequence of genetic and epigenetic alterations and highlight how chromatin 3D conformation might be exploited for diagnosis and therapy.
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Reposted by Steve Thorn
Nature Reviews Cancer @natrevcancer.nature.com · 19/08/2026
dlvr.it
Epigenetic changes linked to cell replication connect ageing with cancer risk
Nature Reviews Cancer, Published online: 19 August 2026; doi:10.1038/s41568-026-00972-6In this Journal Club, Sandra Romero-Cordoba discusses a study that identifies a replication-associated DNA methylation signature, termed CellDRIFT, providing evidence that epigenetic drift linked to cell division may contribute to oncogenic transformation.
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Reposted by Steve Thorn
The OncoAlert Network 🚨 @oncoalert.bsky.social · 18/08/2026
How closely can a lab-grown cancer model really mirror the patient tumour it came from? 🧬 Article 📰 www.nature.com/articles/s41... A compendium of next-generation patient-derived models for diverse cancers
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Reposted by Steve Thorn
Paper Skygest Team @paper-feed.bsky.social · 19/08/2025
**Please repost** If you're enjoying Paper Skygest -- our personalized feed of academic content on Bluesky -- we'd appreciate you reposting this! We’ve found that the most effective way for us to reach new users and communities is through users sharing it with their network
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Stephen Curry @scurry.bsky.social · 14/08/2026
Unexpected and cool. www.nature.com/articles/s41...
nature.com
Alternate RNA decoding results in stable and abundant proteins in mammals - Nature
Alternate RNA decoding, an understudied process, leads to peptide sequence&nbsp;modifications that can&nbsp;have substantial functional effects on protein stability, tissue-specific proteomes and dise...
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Reposted by Steve Thorn
Nature Biotechnology @natbiotech.nature.com · 13/08/2026
Tech giants plunge into life sciences with AI-powered platforms and agents www.nature.com/articles/s41... rdcu.be/fzKXa
nature.com
Tech giants plunge into life sciences - Nature Biotechnology
Nature Biotechnology - Tech giants plunge into life sciences
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Reposted by Steve Thorn
Sarah Aitken @s-j-aitken.bsky.social · 10/08/2026
🔬NEW PREPRINT🔬 Explainable machine learning relates histological to genomic pathology www.biorxiv.org/content/10.6... From John Connelly and Barbara Hernando @bhernando.bsky.social, co-led with Martin Taylor @mstaylor.bsky.social - along with others from #LCEConsortium #genomicPathology #ml #ai
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Reposted by Steve Thorn
Nature Cell Biology @natcellbio.nature.com · 10/08/2026
☕The authors report that targeted BRD4 recruitment enables transcription through H3K9me3/HP1-marked heterochromatin without erasing repressive marks, identifying condensate partitioning as a mechanism for gene desilencing. 👉https://rdcu.be/fyYPw www.nature.com/articles/s41...
nature.com
BRD4 recruitment into HP1 condensates desilences transcription without erasure of repressive chromatin - Nature Cell Biology
Brandon, Robinson-Thiewes, Kaulage et al. report that targeted BRD4 recruitment enables transcription through H3K9me3/HP1-marked heterochromatin without erasing repressive marks, identifying condensat...
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Reposted by Steve Thorn
Nature Reviews Genetics @natrevgenet.nature.com · 03/08/2026
FYI: New online! Folding a broken genome: the versatile roles of cohesin in genome maintenance
dlvr.it
Folding a broken genome: the versatile roles of cohesin in genome maintenance
Nature Reviews Genetics, Published online: 13 July 2026; doi:10.1038/s41576-026-00988-6The protein complex cohesin shapes 3D genome organization through both cohesion and loop extrusion. The authors review the roles of these two mechanistic functions in the cellular response to DNA double-strand breaks, wherein cohesin acts to signal the presence of DNA damage, establish a repair environment, and catalyse the DNA repair process.
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Reposted by Steve Thorn
Anna Poetsch @apoetsch.bsky.social · 03/08/2026
We are happy to present a new paper on the sequence dependence of 🧬 replication timing in the cell cycle. www.biorxiv.org/content/10.6... 🧵 1/6
biorxiv.org
Using Deep Learning to predict replication timing reveals baseline control of genomic DNA sequence
Human DNA replicates according to a precise schedule: certain regions are replicated early, while others replicate later in the cell cycle. The DNA sequence and the epigenome are both indicative for r...
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Reposted by Steve Thorn
Cells & Development @cellsdev.bsky.social · 31/07/2026
It is often said that cancer is like development gone wrong. One of the most important signalling pathways of development, the Wnt pathway, is frequently altered in colon cancer. Nydia Tejeda-Muñoz et al discussed the complex biology of Wnt signalling network. Check it out: doi.org/10.1016/j.cd...
Fig. 1. Central role of the Wnt pathway in tumor initiation and progression, and its crosstalk with major oncogenic pathways. Aberrant activation of the canonical Wnt/β-catenin signaling drives tumorigenesis by sustaining proliferative signaling, enforcing stem-cell–like programs, and promoting survival under oncogenic and therapeutic stress. The Wnt pathway output is further amplified through extensive crosstalk with key oncogenic modules, including PI3K/AKT/mTOR, RAS/RAF/MEK/ERK (MAPK), and TGF-β/Sma and Mad Related Proteins (SMAD), which integrate upstream mitogenic cues, metabolic states, and microenvironmental signals. These interconnected networks generate feedforward and compensatory feedback loops that enhance cellular plasticity, support epithelial–mesenchymal transition, and drive therapy resistance, intratumoral heterogeneity, and metastatic competence.Fig. 2. RAS–RAF–MAPK and its interaction with β-catenin and PI3K–AKT–mTOR in colon cancer. Aberrant RAS–RAF–MEK–ERK activity modulates the canonical Wnt signaling through multiple mechanisms, including phosphorylation-dependent regulation of β-catenin stability, transcriptional enhancement of Wnt target genes, and MAPK-driven remodeling of the tumor microenvironment. Conversely, hyperactivation of Wnt/β-catenin can potentialize MAPK signaling by upregulating growth factor receptors, stabilizing RAS, and reinforcing downstream proliferative circuits. This reciprocal reinforcement establishes feedforward loops that promote tumor cell proliferation, stemness maintenance, EMT, and metastatic dissemination. In addition, MAPK inhibition frequently triggers compensatory reactivation of the Wnt signaling, underscoring their functional interdependence and highlighting the therapeutic relevance of dual-pathway targeting in RAS- or BRAF-mutated malignancies. Direct regulation is indicated in solid lines, indirect effects are indicated in dashed lines.Fig. 3. Mechanistic integration of the Wnt/β-catenin pathway with the PI3K–AKT–mTOR pathway in cancer. The canonical Wnt activation modulates the PI3K–AKT–mTOR signaling through multiple nodes, including inhibition of GSK3β, stabilization of downstream effectors, and transcriptional induction of receptors and metabolic regulators that enhance PI3K pathway output. Reciprocally, PI3K–AKT signaling reinforces the Wnt/β-catenin activity by inhibiting GSK3β-mediated β-catenin degradation, promoting nuclear β-catenin accumulation, and facilitating the transcription of Wnt-dependent oncogenic programs. mTORC1 further integrates inputs from both pathways to regulate translational capacity, metabolic rewiring, and cancer stem cell maintenance. This bidirectional crosstalk creates feedforward loops that drive tumor growth, survival under stress, therapy resistance, and metabolic plasticity, underscoring the relevance of dual-pathway targeting in PI3K- and Wnt-driven malignancies. Direct regulation is indicated in solid lines, indirect effects are indicated in dashed lines.Fig. 4. Role of the Wnt pathway in dorsal–ventral axis specification and maternal determinant relocation. The maternal Wnt/β-catenin signaling directs early dorsal–ventral axis formation in Xenopus early embryos. Cortical rotation after fertilization translocates maternal dorsal determinants, including Dishevelled (Dvl) and Wnt pathway activators, from the vegetal pole toward the future dorsal side (A). This asymmetric distribution inhibits GSK3β locally, stabilizes β-catenin, and activates dorsal-specific genes such as siamois and twin, establishing the dorsal organizer and early polarity (C). Without Wnt signaling, β-catenin is degraded, maintaining low cytoplasmic levels (B). Perturbations of this pathway produce distinct phenotypes: Wnt inhibition leads to ventralized embryos lacking dorsal structures, while Wnt hyperactivation causes dorsalization, expanded organizer activity, and axis duplication. Ectopic Wnt activation in ventral blastomeres can induce a secondary organizer, occasionally resulting in embryos with two heads.
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Konstantin Benno Bräutigam @pathologop.bsky.social · 02/08/2026
Happy to share INCOMMON, a Bayesian framework that infers mutation copy number and multiplicity from nothing but the read counts a clinical panel already produces — recovering gene mutant dosage (GMD) at scale, with no matched normal and no raw data. Nature Genetics: www.nature.com/articles/s41...
nature.com
Gene mutant dosage is associated with prognosis and metastatic tropism in 60,000 clinical cancer samples - Nature Genetics
The authors present INCOMMON, an open-source Bayesian inference tool that determines the multiplicity and copy number of driver mutations from tumor sequencing datasets.
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Reposted by Steve Thorn
Genes & Diseases Journal @genesndiseases.bsky.social · 30/07/2026
What happens when enzymes guarding epigenetic balance turn rogue? This review shows how DNMT1, DNMT3A, DNMT3B shape #hematopoiesis yet drive #leukemia when dysregulated — mapping mechanisms, mutations, and therapeutic inhibitors. #GenesAndDiseases: doi.org/10.1016/j.ge...
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Steve Thorn @drthorn.bsky.social · 25/07/2026
Seems like a good idea.
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Reposted by Steve Thorn
bioRxiv Genomics @biorxiv-genomic.bsky.social · 22/07/2026
Using Deep Learning to predict replication timing reveals baseline control of genomic DNA sequence www.biorxiv.org/content/10.64898/20…
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Jason Moore @moorejh.bsky.social · 14/07/2026
Gaining biological insights through supervised data visualization www.nature.com/articles/s43... #bioinfromatics #machinelearning #datascience
nature.com
Gaining biological insights through supervised data visualization - Nature Computational Science
This study introduces RF-PHATE, a supervised visualization method that preserves data structure while revealing biological patterns, enabling insights into disease progression in multiple sclerosis, C...
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Reposted by Steve Thorn
Nature Reviews Gastroenterology & Hepatology @natrevgastrohep.nature.com · 14/07/2026
ICYMI: New online! Features of immune microenvironment associated with colorectal polyp development
dlvr.it
Features of immune microenvironment associated with colorectal polyp development
Nature Reviews Gastroenterology & Hepatology, Published online: 13 July 2026; doi:10.1038/s41575-026-01230-8Features of immune microenvironment associated with colorectal polyp development
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Reposted by Steve Thorn
Nature Reviews Genetics @natrevgenet.nature.com · 13/07/2026
New online! Folding a broken genome: the versatile roles of cohesin in genome maintenance
dlvr.it
Folding a broken genome: the versatile roles of cohesin in genome maintenance
Nature Reviews Genetics, Published online: 13 July 2026; doi:10.1038/s41576-026-00988-6The protein complex cohesin shapes 3D genome organization through both cohesion and loop extrusion. The authors review the roles of these two mechanistic functions in the cellular response to DNA double-strand breaks, wherein cohesin acts to signal the presence of DNA damage, establish a repair environment, and catalyse the DNA repair process.
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Fran Supek @fransupek.bsky.social · 10/07/2026
DNA mismatch repair (MMR) deficiency is an important driver of cancer genome instability. Yet it is usually treated as a binary label 0️⃣/1️⃣: MSI-high or not. Our new preprint -- fresh from the oven🔥 -- argues that this simple dichotomy obscures the underlying biology.
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grimmrad 🧬🎼🖼️🏛️ @grimmrad.bsky.social · 30/06/2026
New review in Nature Reviews Cancer: "Imaging the hallmarks of cancer." A collaborative effort to map non-invasive clinically relevant in vivo imaging onto every cancer hallmark, separating what can be seen directly from what is only accessible via surrogates. 🧵 doi.org/10.1038/s415...
doi.org
Imaging the hallmarks of cancer - Nature Reviews Cancer
In this Review, Grimm et al. describe the range of non-invasive diagnostic imaging approaches to monitor the various hallmarks of cancer and how their implementation is shaping clinical practice.
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Ming Tommy Tang @tommytang.bsky.social · 28/06/2026
Scalable and unsupervised discovery from raw sequencing reads using SPLASH2 www.nature.com/articles/s4...
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Stephen Turner @stephenturner.us · 23/06/2026
Last week, I taught a workshop here on AI-powered literature review and synthesis, mostly using Consensus (provided by our Library), Consensus+Zotero, and Consensus+Claude. Recording is now online: doi.org/10.59350/x6g...
doi.org
AI-powered Literature Review & Synthesis
Recording from my workshop last week on smarter literature review with AI
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Genes & Diseases Journal @genesndiseases.bsky.social · 22/06/2026
Scientists develop a 13-gene #ChromosomalInstability (CIN) score to predict prognosis, immune landscape and treatment response in #BreastCancer, showing low-CIN tumors have stronger immune activity and greater #immunotherapy potential. #OpenAccess: doi.org/10.1016/j.ge...
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Philip Ball @philipcball.bsky.social · 17/06/2026
Giving this another round. Here I've explored the phenomenon of mutational buffering, whereby variants of coding genes that might be deleterious are kept "hidden" by a buffering mechanism that restores proper functioning of the gene product. www.nature.com/articles/d41...
nature.com
These ‘master’ proteins protect us from deadly mutations — and could inspire new drugs
Biology has clever ways to mask the effects of potentially harmful gene mutations. Scientists are investigating how this ‘buffering’ works — and how to exploit it.
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Nature Reviews Genetics @natrevgenet.nature.com · 11/06/2026
FYI: New online! Written in blood: DNA methylation in liquid biopsy
dlvr.it
Written in blood: DNA methylation in liquid biopsy
Nature Reviews Genetics, Published online: 21 May 2026; doi:10.1038/s41576-026-00977-9In this Journal Club, Chatterjee and Rodger highlight two studies by Guo et al. and Shen et al. that demonstrated how genome-wide DNA methylation profiling enables sensitive detection and classification of tumour-derived cell-free DNA, advancing epigenetic approaches in liquid biopsy for cancer diagnostics.
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Hanghui Ye @hanghuiye.bsky.social · 09/06/2026
I am happy to share that my PhD work on a pan-cancer single-cell analysis of intratumoral copy number diversity and evolution is now out as a pre-proof in Cancer Discovery. In this paper, we profiled 62,646 aneuploid cells from 94 tumors across 7 major human cancer types using single-cell DNA-seq.
aacrjournals.org
A pan-cancer single-cell analysis of intratumoral copy number diversity and evolution
Abstract. Aneuploidy is a hallmark of human tumors. While patient-level copy number alteration (CNA) differences have been investigated extensively in large cohorts, their intratumoral heterogeneity r...
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