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A Biopsy-Free Future: Science Fiction or Science Reality?
JACC Heart Fail. 2025 Nov 21:102782. doi: 10.1016/j.jchf.2025.102782. Online ahead of print.
NO ABSTRACT
PMID:41273317 | DOI:10.1016/j.jchf.2025.102782
A Workflow for Full Traceability of AI Decisions
Site-specific DNA insertion into the human genome with engineered recombinases
Nature Biotechnology, Published online: 06 November 2025; doi:10.1038/s41587-025-02895-3
Engineered DNA recombinases efficiently and specifically insert genetic cargos without the use of landing pads.Fair human-centric image dataset for ethical AI benchmarking
Nature, Published online: 05 November 2025; doi:10.1038/s41586-025-09716-2
The Fair Human-Centric Image Benchmark (FHIBE, pronounced ‘Feebee’)—an image dataset that implements best practices for consent, privacy, compensation, safety, diversity and utility—can be used responsibly as a fairness evaluation dataset for many human-centric computer vision applications.An In-depth Study of LLM Contributions to the Bin Packing Problem
Best Practices for Biorisk Evaluations on Open-Weight Bio-Foundation Models
Multi-omic profiling reveals age-related immune dynamics in healthy adults
Nature, Published online: 29 October 2025; doi:10.1038/s41586-025-09686-5
This multi-omic longitudinal analysis of the healthy human peripheral immune system constructs the Human Immune Health Atlas and assembles data on immune cell composition and state changes with age, including responses to cytomegalovirus infection and influenza vaccination.Impact and Implications of Generative AI for Enterprise Architects in Agile Environments: A Systematic Literature Review
Breaking Agent Backbones: Evaluating the Security of Backbone LLMs in AI Agents
Progressive Growing of Patch Size: Curriculum Learning for Accelerated and Improved Medical Image Segmentation
Integrated epigenetic and genetic programming of primary human T cells
Nature Biotechnology, Published online: 21 October 2025; doi:10.1038/s41587-025-02856-w
Multiplexed editing in primary human T cells generates enhanced immune cell therapies.Parity and lactation induce T cell mediated breast cancer protection
Nature, Published online: 20 October 2025; doi:10.1038/s41586-025-09713-5
Parity and lactation induce T cell mediated breast cancer protectionAlternatives to animal testing are the future — it’s time that journals, funders and scientists embrace them
Nature, Published online: 20 October 2025; doi:10.1038/d41586-025-03344-6
Biomedical research techniques that don’t involve the use of animals are gaining momentum, but those using innovative approaches still face resistance from some quarters.Evidence of fructose metabolism in colorectal cancer
Cell Death Discovery, Published online: 16 October 2025; doi:10.1038/s41420-025-02745-w
Evidence of fructose metabolism in colorectal cancerFramework for the Development and Delivery of Digital Peer Support Programs: Qualitative Study on in-Person and Digital Delivery for People With Cardiovascular Disease
A human pan-disease blood atlas of the circulating proteome
Stripe enlists a who’s who, including Anthropic, OpenAI, and Paradigm, to build a new blockchain
An eyecare foundation model for clinical assistance: a randomized controlled trial
Nature Medicine, Published online: 28 August 2025; doi:10.1038/s41591-025-03900-7
Trained and validated on multimodal data from 14.5 million images from multicountry datasets, a foundation model is shown to increase diagnostic and referral accuracy of clinicians when used as an assistant in a trial involving 16 ophthalmologists and 668 patients.GeneBits: ultra-sensitive tumour-informed ctDNA monitoring of treatment response and relapse in cancer patients
J Transl Med. 2025 Aug 27;23(1):964. doi: 10.1186/s12967-025-06993-3.
ABSTRACT
BACKGROUND: Circulating tumour DNA (ctDNA) in liquid biopsies has emerged as a powerful biomarker in cancer patients. Its relative abundance in cell-free DNA serves as a proxy for the overall tumour burden. Here we present GeneBits, a method for cancer therapy monitoring and relapse detection. GeneBits employs tumour-informed enrichment panels targeting 20-100 somatic single-nucleotide variants (SNVs) in plasma-derived DNA, combined with ultra-deep sequencing and unique molecular barcoding. In conjunction with the newly developed computational method umiVar, GeneBits enables accurate detection of molecular residual disease and early relapse identification.
RESULTS: To assess the performance of GeneBits and umiVar, we conducted benchmarking experiments using three different commercial cell-free DNA reference standards. These standards were tested with targeted next-generation sequencing (NGS) workflows from both IDT and Twist, allowing us to evaluate the consistency and accuracy of our approach across different oligo-enrichment strategies. GeneBits achieved comparable depth of coverage across all target sites, demonstrating robust performance independent of the enrichment kit used. For duplex reads with ≥ 4x UMI-family size, umiVar achieved exceptionally low error rates, ranging from 7.4×10-7 to 7.5×10-5. Even when including mixed consensus reads (duplex & simplex), error rates remained low, between 6.1×10-6 and 9×10-5. Furthermore, umiVar enabled variant detection at a limit of detection as low as 0.0017%, with no false positive calls in mutation-free reference samples. In a reanalysed melanoma cohort, variant allele frequency kinetics closely mirrored imaging results, confirming the clinical relevance of our method.
CONCLUSION: GeneBits and umiVar enable highly accurate therapy and relapse monitoring in plasma as well as identification of molecular residual disease within four weeks of tumour surgery or biopsy. By leveraging small, tumour-informed sequencing panels, GeneBits provides a targeted, cost-effective, and scalable approach for ctDNA-based cancer monitoring. The benchmarking experiments using multiple commercial cell-free DNA reference standards confirmed the high sensitivity and specificity of GeneBits and umiVar, making them valuable tools for precision oncology. UmiVar is available at https://github.com/imgag/umiVar .
PMID:40866952 | PMC:PMC12382282 | DOI:10.1186/s12967-025-06993-3