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02.
arXiv (CS.CV) 2026-06-17

Enhancing Pathological VLMs with Cross-scale Reasoning

作者:
Chi Phan↗Tianyi Zhang↗Qiaochu Xue↗Yufeng Wu↗Dan Hu↗Zeyu Liu↗Sudong Wang↗Yueming Jin↗

Pathological images are inherently multi-scale, requiring pathologists to integrate evidence from global tissue architecture at low magnification to cellular morphology at higher magnification for accurate diagnosis. While existing pathological datasets for vision-language model (VLM) include various scales, they often lack an explicit cross-scale reasoning objective. This limitation prevents VLMs from capturing essential cross-scale representations and learning evidence-based reasoning. To bridge this gap, we introduce the first cross-scale training and evaluation paradigm that formulates pathology interpretation as multi-magnification reasoning. However, creating such a task reveals a critical challenge: multi-image visual question answering (VQA) is prone to text-only shortcuts, which allow models to guess answers using magnification-dependent artifacts rather than visual evidence. To address this, we propose a leakage-aware curation pipeline that combines adversarial text-only screening with constraint-guided question design. Using this pipeline, we construct Scale-VQA, a high-quality benchmark with 4,685 multiple-choice questions grounded in 2,537 pathology images across multiple magnification levels. Finally, we present ScaleReasoner-R1, a model trained via reinforcement learning to optimize performance on the cross-scale VQA task. ScaleReasoner-R1 achieves state-of-the-art performance on our cross-scale reasoning benchmark and generalizes to SOTA performance on established single-scale benchmarks. Findings suggest that even the limited cross-scale supervision can significantly improve pathological understanding. The code and demos will be open-sourced.

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03.
arXiv (CS.CV) 2026-06-11

Precision-Aware Illumination-Disentangled Vision Transformer for Spacecraft 6D Pose Estimation

作者:
Zongwu Xie↗Yifan Yang↗Yonglong Zhang↗Guanghu Xie↗Yang Liu↗Shuo Zhang↗

Vision sensors provide a lightweight solution for spacecraft proximity operations, but monocular spacecraft 6D pose estimation remains difficult under illumination variation, specular reflection, shadowing, weak texture, and background interference. These factors make local visual evidence spatially unreliable and can destabilize pose regression. This article proposes a Precision-Aware Illumination-Disentangled Vision Transformer (PAID-ViT) for robust spacecraft pose estimation.The proposed model separates pose-relevant structure tokens from illumination-sensitive appearance tokens, estimates patch reliability before pose aggregation, and uses foreground mask supervision to preserve silhouette cues. A parameter-free geometric recovery module converts normalized crop coordinates, log-depth, and a continuous 6D rotation representation into camera-frame rotation and translation. Experiments on SPEED+ V2, the SPEED+ validation/lightbox/sunlamp evaluation configuration used in this study, suggest that PAID-ViT reduces translation error and improves robustness in the challenging sunlamp domain, while ablation studies support the complementary roles of illumination disentanglement, reliability-aware token aggregation, mask supervision, and training-side regularization.

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04.
arXiv (CS.LG) 2026-06-19

Multimodal Concept Bottleneck Models

作者:
Tongqing Shi↗Ge Yan↗Tuomas Oikarinen↗Tsui-Wei Weng↗

arXiv:2606.19882v1 Announce Type: cross Abstract: Concept Bottleneck Models (CBMs) enhance the interpretability of deep learning networks by aligning the features extracted from images with natural concepts. However, existing CBMs are constrained in their ability to generalize beyond a fixed set of predefined classes and the risk of non-concept information leakage, where predictive signals outside the intended concepts are inadvertently exploited. In this paper, we propose Multimodal Concept Bottleneck Model (MM-CBM) to address these issues and extend CBMs into CLIP. MM-CBM utilizes dual Concept Bottleneck Layers (CBLs) to align both the image and text embeddings into interpretable features. This allows us to perform new vision tasks like zero-shot classification or image retrieval in an interpretable way. Compared to existing methods, MM-CBM achieves up to 51.26% accuracy improvement on average across four standard benchmarks. Our method maintains high accuracy, staying within ~5% of black-box performance while offering greater interpretability.

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05.
medRxiv (Medicine) 2026-06-15

Population-scale genomics reveals divergent pathogenicity of variant classes across paralogous collagen IV genes

作者:
Tzoumkas↗Doctor↗G. T↗Sadeghi-Alavijeh↗Gale↗D. P↗

Monoallelic pathogenic or likely pathogenic variants in COL4A3 and COL4A4 occur in approximately 1 in 106 individuals, yet whether these paralogous genes confer equivalent pathogenicity for the same variant classes has not been tested at population scale. Using whole-genome sequencing data from the UK Biobank (UKB; n = 500,000), with replication in the All of Us Research Program (n = 414,000), we performed per-variant association testing, gene-based collapsing analyses and phenome-wide association studies (PheWAS) across haematuria, proteinuria and chronic kidney disease. We identified 64 COL4A3 and 92 COL4A4 rare variants significantly associated with haematuria or proteinuria, generating a quantitative allelic series for clinical variant interpretation. Glycine substitutions within collagenous domains conferred similar risks in both genes. In contrast, truncating and non-collagenous domain (NC1) missense variants were strongly associated with haematuria and proteinuria in COL4A4 carriers but showed substantially attenuated or absent associations in COL4A3 carriers despite comparable carrier frequencies and predicted pathogenicity scores. These findings were independently replicated in All of Us. Genome-wide association analysis identified the COL4A3/COL4A4 locus as the dominant genetic determinant of haematuria, with the signal attributable to the aggregate effects of rare coding variants and no evidence of independent common variant or trans-acting modifier effects. These findings demonstrate substantial gene-specific differences in tolerance to truncating and NC1 variants between COL4A3 and COL4A4, challenging assumptions of equivalent pathogenicity across paralogous collagen IV genes. Gene identity and not variant class alone, should inform risk stratification, variant interpretation and genetic counselling in individuals carrying collagen IV risk genotypes.

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06.
medRxiv (Medicine) 2026-06-17

Differential Determinants of Past Behavior and Future Intention Regarding Voluntary Blood Donation: A Cross-Sectional Study of Knowledge, Attitudes, and Practices in Qingdao, China

作者:
cheng↗zhang↗Wang↗Dai↗

Background A persistent gap between motivation and action threatens voluntary blood supply. This study examined the publics knowledge, attitudes, and practices (KAP) regarding blood donation, with a particular focus on identifying the different determinants of past blood donation behavior and future willingness to donate. Methods Convenience sampling was used to conduct a cross-sectional survey among 1,058 eligible people in Qingdao, China, between July and November 2025. Data were collected via a self-designed KAP questionnaire. To find independent characteristics linked to previous behavior and future intention, respectively, multivariable binary logistic regression was used. Results Overall, 37.0% of participants (n=391) had a lifetime donation history, while 39.2% (n=415) intended to donate in the next 12 months. Past behavior was positively associated with older age (36-45 years: OR=6.84; 95% CI: 3.21-14.58), higher education (OR=2.06; 95% CI: 1.33-3.17), and interpersonal interaction channels (OR=1.45; 95% CI: 1.01-2.09) but hindered by safety concerns (OR=0.23; 95% CI: 0.16-0.34). Conversely, future intention was positively correlated with male sex (OR=1.69; 95% CI: 1.24-2.29), prior donation history (OR=2.69; 95% CI: 1.87-3.86), having family members or friends in need of blood (OR=2.75; 95% CI: 1.96-3.85), and traditional media exposure (OR=3.33; 95% CI: 2.18-5.10). Higher education was adversely correlated with future intention (OR=0.55; 95% CI: 0.38-0.79). Conclusion There is a substantial disparity between donation motivation and action. The determinants of past behavior and future intention are asymmetric, suggesting that stage-specific interventions are required, using social mobilization for initiating first-time donations, while employing family reciprocity and authoritative communication to sustain long-term engagement.

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07.
Nature (Science) 2026-06-17

Molecular basis of polyadenylated RNA fate determination in the nucleus

作者:
Andrii Bugai↗

Eukaryotic genomes generate a plethora of polyadenylated (pA+) RNAs1,2, which are packaged into ribonucleoprotein particles (RNPs). To ensure faithful gene expression, functional pA+ RNPs, including protein-coding RNPs, are exported to the cytoplasm, whereas transcripts within non-functional pA+ RNPs are degraded in the nucleus1–4. How cells distinguish these opposing fates remains unknown. The DExD-box ATPase UAP56 (also known as DDX39B) is a central component of functional pA+ RNPs, and promotes their docking to the nuclear pore complex-anchored TREX-25,6, which triggers transcript release from UAP56 to facilitate export7. Here we reveal that the poly(A) tail exosome targeting (PAXT) connection8 binds a TREX-2-like module, which releases pA+ RNAs from UAP56 for decay by the nuclear exosome. The core of this module consists of a LENG8–PCID2–SEM1 trimer, which we show is structurally and biochemically equivalent to the central GANP–PCID2–SEM1 trimer of TREX-2. Mutagenesis and transcriptomic data demonstrate that the nuclear fate of pA+ RNPs is governed by the contending actions of nucleoplasmic PAXT and nuclear pore complex-associated TREX-2, which interpret RNA-bound UAP56 as a signal for RNA decay or export, respectively. As RNA targets of PAXT are generally short and intron-poor, we propose an overall model for pA+ RNP fate determination whereby the distinct sub-nuclear localizations of PAXT and TREX-2 govern the degradation of short non-functional pA+ RNAs while allowing export of their longer and functional counterparts. Biochemical, structural and cell biological analyses reveal that UAP56 (DDX39B) assembles with a TREX-2–like module that redirects non-functional polyadenylated RNAs from export to degradation.

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08.
PLOS Medicine 2026-05-13

Contribution of nosocomial transmission to <i>Klebsiella pneumoniae</i> neonatal sepsis in Africa and South Asia: An observational study of infection clusters inferred from pathogen genomics and temporal data

作者:
Erkison Ewomazino Odih↗

by Erkison Ewomazino Odih, Jabir A. Abdulahi, Anne V. Amulele, Matthew Bates, Eva Heinz, Weiming Hu, Kajal Jain, Rindidzani Magobo, Courtney P. Olwagen, John M. Tembo, Tolbert Sonda, Jonathan Strysko, Caroline C. Tigoi, Kyle Bittinger, Jennifer Cornick, Ebenezer Foster-Nyarko, Wilson Gumbi, Steven M. Jones, Chileshe L. Musyani, Carolyn M. McGann, Ahmed M. Moustafa, Patrick Musicha, James C. L. Mwansa, Moreka L. Ndumba, Thomas D. Stanton, Donwilliams O. Omuoyo, Oliver Pearse, Laura T. Phillips, Paul J. Planet, Charlene M. C. Rodrigues, Fatou Secka, Kirsty Sands, Erin Theiller, Allan M. Zuza, Sulagna Basu, Grace J. Chan, Kenneth C. Iregbu, Jean-Baptiste Mazarati, Semaria Solomon Alemayehu, Timothy R. Walsh, Rabaab Zahra, Angela Dramowski, Sombo Fwoloshi, Appiah-Korang Labi, Lola Madrid, Noah Obeng-Nkrumah, David Ojok, Boaz D. Wadugu, Andrew C. Whitelaw, Anudita Bhargava, Atul Jindal, Ramesh K. Agarwal, Alexander M. Aiken, James A. Berkley, Susan E. Coffin, Nicholas A. Feasey, Nelesh P. Govender, Davidson H. Hamer, Shabir A. Madhi, Mari Jeeva Sankar, Kelly L. Wyres, Kathryn E. Holt Background Klebsiella pneumoniae is the leading cause of sepsis among neonates in low- and middle-income countries (LMICs) in Africa and Asia, contributing substantially to the overall burden of antimicrobial-resistant infections and mortality among neonates globally. Pathogen sequencing has been used to investigate case clusters and confirm nosocomial transmission in a small number of neonatal units. Here we utilise pathogen sequence data to estimate the fraction of K. pneumoniae neonatal sepsis attributable to nosocomial transmission in African and South Asian countries. Methods and findings We estimated the proportion of invasive K. pneumoniae disease involved in nosocomial transmission clusters in a given neonatal unit, using single-linkage clustering based on pairwise temporal and genetic distances estimated from bacterial whole-genome sequences aggregated from 10 contributing studies. Analysing 1,523 K. pneumoniae isolates from 27 units in 13 countries in Africa and South Asia between 2013 and 2023, we inferred 156 nosocomial transmission clusters, ranging from 2 to 188 neonates each (83 of the clusters comprised ≥3 cases). Overall, we estimated that 1,035 neonatal infections (68.0%) were part of nosocomial transmission clusters. Excluding the first infection in each cluster as a potential index case, we estimate at least 879 (57.7%) infections were acquired via nosocomial transmission. Sensitivity analyses showed that results were robust to the choice of genetic distance estimation methods and thresholds used to define clusters, and cluster estimates were stable over temporal distance thresholds ranging from 2 to 8 weeks. Isolates were mostly extended-spectrum beta-lactamase (ESBL) producers (90.9%) and included 172 multi-locus sequence types (STs). Fourteen STs, including several globally recognised multidrug-resistant lineages, were associated with transmission clusters at multiple units, and these were collectively responsible for two-thirds of all infections. Carriage of carbapenemase genes (adjusted odds ratio, aOR = 2.08 [95% confidence interval, CI: 1.04, 4.14]; p = 0.04) and ESBL genes (aOR = 2.48 [95% CI: 1.26, 4.90]; p = 0.006) were significantly positively associated with transmission in a logistic regression model with site as a covariate. Limitations of this study include the lack of sufficient clinical data to allow high-resolution investigation of transmission dynamics and lack of facility-level data to investigate contributors to the observed differences in transmission burden across sites. Conclusions Nosocomial transmission contributes to a substantial proportion of K. pneumoniae sepsis in neonatal care units in Africa and South Asia. Reducing transmission within these settings through improved infection prevention and control and other measures could substantially reduce the neonatal sepsis burden. A high burden of transmission clusters is associated with the same drug-resistant lineages that are recognised as high-risk clones associated with hospital outbreaks in high-income countries, indicating global connectivity of the antimicrobial-resistant pathogen population.

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09.
arXiv (CS.CV) 2026-06-11

Plan-and-Verify Video Reward Reasoning with Spatio-Temporal Scene Graph Grounding

作者:
Hyomin Kim↗Junghye Kim↗Joanie Hayoun Chung↗Yoonjin Oh↗Kyungjae Lee↗Sungbin Lim↗Sungwoong Kim↗

Reward models for text-to-video (T2V) generation guide post-training but often fail at fine-grained semantic alignment. We trace this to two structural weaknesses in existing reasoning-based reward models: they do not systematically verify every condition described in the prompt, and the visual evidence supporting each judgment remains implicit in their free-form reasoning. We propose SG-PVR, a video reward model that addresses these limitations through plan-and-verify reasoning grounded in spatio-temporal scene graphs. The verification plan decomposes the prompt into atomic claims, ensuring every requirement is checked. The spatio-temporal scene graph, encoding entities, attributes, and temporally-grounded relations, is extracted from the video and maintained as a persistent structured visual reference throughout reasoning. Each claim is verified against both the video and the scene graph, anchoring judgments in explicit visual evidence. SG-PVR achieves strong performance on semantic alignment, including fine-grained temporal semantics. As a test-time reranker, it further enhances compositional alignment in T2V generation.

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10.
arXiv (CS.AI) 2026-06-15

Mood-Aware Music Recommendation: Integrating User Affective Signals into Ranking Systems

作者:
Terence Zeng↗Abhishek K. Umrawal↗

arXiv:2606.13858v1 Announce Type: cross Abstract: Recommendation systems are essential in modern music streaming platforms due to the vast amount of available content. While collaborative filtering is widely used to suggest items based on the preferences of others with similar patterns, it performs poorly in domains where user-item interactions are sparse, such as music. Content-based filtering is an alternative approach that examines the qualities of the items themselves. Genre, instrumentation, and lyrics have been explored; however, relatively little attention has been given to emotion recognition. Since a user's emotional state strongly influences their music choice, incorporating mood signals offers a promising direction for personalization. In this work, we propose a mood-conditioned ranking framework that integrates user affective signals into the recommendation process via softmax-based sampling in the energy-valence space. We evaluate the approach via single-blind experiments in which participants compare recommendations from the proposed system against a baseline. The results indicate improved perceived recommendation quality, providing preliminary evidence for the effectiveness of incorporating mood-based inputs into music recommendations.

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11.
medRxiv (Medicine) 2026-06-10

Developmental Associations Linking Childhood Trauma and Early Cannabis Use to Adolescent DNA Methylation and Psychotic-Like Experiences

作者:
Trotta↗Liu↗Austin-Zimmerman↗Spinazzola↗Sideli↗Aas↗Rodriguez↗Li↗Leung↗B. M↗Zhang↗Sham↗…

Background. Psychotic-like experiences (PLEs) index early risk for psychotic disorders and are consistently associated with childhood trauma, yet underlying biological mechanisms remain poorly understood. DNA methylation (DNAm) may capture the biological embedding of early adversity, while adolescent exposures such as cannabis use may modify these processes. We examined epigenome-wide associations of childhood trauma and PLEs, tested the moderating role of early cannabis use, and evaluated DNAm as a potential mediator. Methods. We analysed data from the Avon Longitudinal Study of Parents and Children (ALSPAC), a UK population-based birth cohort. Childhood trauma was assessed prospectively and retrospectively. Epigenome-wide DNAm was measured in peripheral blood at ~17 years using the Illumina 450K array, and PLEs were assessed at 18 using a structured interview. Epigenome-wide association studies were conducted for trauma-DNAm and DNAm-PLEs associations in the final sample (n = 1,457), adjusting for demographic, biological, and technical covariates. Differentially methylated regions (DMRs) were identified using DMRff, followed by functional enrichment analyses. Cannabis use at 15.5 was modelled as a moderator with multiple imputation for missing data. Mediation was tested using the Divide-Aggregate Composite-null Test (DACT). Results. Childhood trauma was associated with widespread DNAm differences, primarily at the regional level, with enrichment in pathways related to cellular stress responses. In contrast, DNAm associated with PLEs was more limited and implicated loci involved in epigenetic regulatory processes. These signatures were largely distinct, and there was no evidence supporting mediation after multiple testing correction. Incorporating cannabis use altered the pattern and extent of DNAm associations, with stronger and more significant signals observed at both CpG and regional levels, although these did not translate into evidence of mediation. Conclusion. Childhood trauma and PLEs show distinct DNAm signatures in adolescence, with trauma-related DNAm reflecting broad stress-related processes and PLE-associated DNAm implicating regulatory mechanisms. We found little evidence that DNAm mediates the trauma-PLE association. Instead, adolescent exposures, particularly cannabis use, may distinctly influence trauma-related epigenetic variation with limited detectable downstream effects on PLEs. These findings support a context-dependent model of epigenetic risk and highlight the need for larger longitudinal studies to clarify causal pathways linking early adversity to psychosis.

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12.
PLOS Computational Biology 2026-06-12

Ten simple rules for executing an inherited research plan in computational biology

作者:
Sahar Javaheri Tehrani↗

by Sahar Javaheri Tehrani, Toni Ingolf Gossmann Trainees in computational biology frequently inherit research plans whose aims, datasets, analytical strategies, and technical constraints were defined before their arrival. These plans often emerge from grants, collaborations, legacy codebases, shared high-performance computing environments, or partially completed analyses. While such plans provide a useful scaffold, they rarely specify all implementation details, prior assumptions, evaluation criteria, or dependencies needed for reliable execution. The transition from inheriting a partially articulated plan to producing reproducible results therefore creates an execution gap: a phase in which trainees must reconstruct what the project is, which elements are fixed, which remain negotiable, and which technical or organizational assumptions need to be tested before full-scale analysis begins. In this Ten Simple Rules article, we provide a practice-oriented framework for stabilizing inherited computational biology projects before workflows, benchmarks, and decision paths become entrenched. We do not claim that the individual practices described here are novel in isolation. Rather, our contribution is to organize familiar practices into a sequenced framework for a recurrent but under-articulated phase of computational research: inherited-plan execution. Computational biology makes this phase especially important because projects often combine heterogeneous datasets, fragile software environments, undocumented preprocessing choices, benchmarking assumptions, distributed collaborators, and asymmetrical access to contextual knowledge. By making this transition visible and operational, the rules aim to help trainees, supervisors, and collaborators reduce ambiguity, test feasibility, document decisions, and support reproducible and equitable project execution under real-world constraints.

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13.
Nature (Science) 2026-06-17

Towards Conversational AI for Disease Management

作者:
Valentin Liévin↗

While large language models (LLMs) have shown promise in diagnostic dialogue1, their capabilities for effective management reasoning—including disease progression, therapeutic response, and safe medication prescription—remain under-explored. We advance the previously demonstrated diagnostic capabilities of the Articulate Medical Intelligence Explorer (AMIE)1−3 through a new LLM-based agentic system optimized for multi-visit clinical management and dialogue. To ground its reasoning in authoritative clinical knowledge, AMIE leverages Gemini’s long-context capabilities4, combining in-context retrieval with structured reasoning to align its output with up-to-date clinical practice guidelines and drug formularies. In a randomized, blinded virtual Objective Structured Clinical Examination (OSCE) study, AMIE was compared to 21 primary care physicians (PCPs) across 100 multi-visit case scenarios designed to reflect UK NICE Guidance and BMJ Best Practice guidelines. AMIE was non-inferior to PCPs in management reasoning as assessed by specialists and scored better in both preciseness of treatments and investigations, and in its alignment with and grounding in clinical guidelines. To benchmark medication reasoning, we developed RxQA, a multiple-choice question benchmark derived from two national drug formularies (US, UK) and validated by board-certified pharmacists. Though AMIE and PCPs both benefited from the ability to access external drug information, AMIE outperformed PCPs on higher difficulty questions. While further research would be needed before real-world translation, AMIE’s strong performance across evaluations marks a significant step towards conversational AI as a tool in disease management.

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14.
arXiv (math.PR) 2026-06-15

Laws of Large Numbers for Non-Independent Random Variables on Hyperspaces with respect to the Hausdorff Metric

作者:
Jinping Zhang↗Li Guan↗

arXiv:2011.07199v5 Announce Type: replace Abstract: This paper investigates the limit behavior of the Minkowski sums for sequences of set-valued random variables. When the underlying space is finite dimensional, by using the support function, we establish the weak and strong laws of large numbers for non-independent random variables in the hyperspace with respect to the Hausdorff metric $d_H$.

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15.
arXiv (CS.AI) 2026-06-17

Retrofitters, pragmatists and activists: Public interest litigation for accountable automated decision-making

作者:
Henry Fraser↗Zahra Stardust↗

arXiv:2511.03211v4 Announce Type: replace-cross Abstract: This paper examines the role of public interest litigation in promoting accountability for AI and automated decision-making (ADM) in Australia. Since ADM regulation faces political and geopolitical headwinds, effective governance will have to rely on the enforcement of existing laws. Drawing on interviews with Australian public interest litigators, technology policy activists, and technology law scholars, the paper positions public interest litigation as part of a larger ecosystem for transparency, accountability and justice with respect to ADM. The paper explores the tactics and strategies of what one participant described as 'retrofitting' old laws to ADM. These go beyond creative legal argumentation, to encompass practices of community-building, collaboration on theories of change, canny selection of clients and causes of action, and the alignment of the interests of stakeholders in litigation. Naturally, the paper also contends with the limits of these strategies, and of the Australian legal system. Where limits are, however, capable of being overcome, the paper presents findings on urgent needs: the enabling institutional arrangements without which effective litigation and accountability will falter. The paper is relevant to law and technology scholars; individuals and groups harmed by ADM; public interest litigators and technology lawyers; civil society and advocacy organisations; and policymakers.

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16.
PLOS Computational Biology 2026-06-22

GrassSV – hybrid method to detect structural variants in high throughput DNA-seq data

作者:
Dominik Witczak↗

by Dominik Witczak, Krzysztof Sychla, Julia Wysocka, Artur Laskowski, Wojciech Frohmberg, Marta Glowacka, Alicja Dzik, Piotr Lukasiak, Jacek Blazewicz, Aleksandra Swiercz Genetic diversity is crucial for populations to adapt and survive in dynamic environments. This diversity arises from genetic mutations, which manifest in the genome as structural variants (SVs). Several types of SVs exist, but not all are equally easy to detect. Current SV detection tools tend to specialize in certain SV types or require the use of multiple tools to obtain a comprehensive variant profile, which increases computational cost and complexity. While some methods excel at identifying breakpoints, they often struggle with accurately classifying variant types, and their precision depends strongly on data quality and sequencing technology. At present, the majority of available genomic data originates from high-quality short reads, which remain the most affordable sequencing technology. In this manuscript, we introduce GrassSV, a novel and computationally efficient method that employs a hybrid pattern-matching approach to detect all major classes of structural variants using short-read sequencing data. GrassSV integrates depth-of-coverage analysis with contig-based pattern recognition to ensure both sensitivity and precision while minimizing false positives and runtime. Its robustness was demonstrated on the human Genome in a Bottle dataset, as well as on synthetic data derived from the yeast genome, where it achieved high accuracy across all SV types at a lower computational cost compared to existing methods. This makes GrassSV a practical alternative to multi-tool pipelines typically required for comprehensive SV detection. GrassSV is available at https://github.com/Domomod/GrassSV under GPL-3.0 license and the benchmark at: https://github.com/Domomod/GrassBenchmark.

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17.
bioRxiv (Bioinfo) 2026-06-22

Complex-valued representations of time-series gene expression profiles for network analysis

作者:
Sun↗Cao↗Ikumi↗Shimizu↗K. K↗Sese↗

Time-series RNA sequencing provides a powerful framework for studying dynamic gene regulation, yet conventional analyses usually represent gene expression profiles as real-valued vectors in Euclidean space and quantify similarity using correlation or distance. Inspired by quantum information theory, we present a framework for encoding time-series gene expression profiles as complex-valued vectors comprising amplitude and phase components in Hilbert space. We designed multiple encoding models to represent gene expression in the amplitude of complex-valued vectors, encode temporal differences in the phase, and extend the phase representation to incorporate the direction of local expression changes. Gene-gene similarity was then quantified using fidelity, which measures the overlap between two encoded vectors. Evaluation using time-series RNA-seq datasets across diverse species and biological contexts showed that different encoding models produced distinct fidelity distributions that were related to, but distinct from, conventional correlation measures. We then constructed gene-gene networks using pairwise fidelity values and detected communities containing genes with similar temporal profiles. Although fidelity distributions differed across encoding models, the resulting communities captured major temporal expression programs, and functional annotations based on gene ontology and Kyoto encyclopedia of genes and genomes pathway analyses provided exploratory biological context. The detected communities were comparable to those obtained using conventional methods, including weighted correlation network analysis and fuzzy c-means clustering. Furthermore, as a proof-of-concept, we performed SWAP-test circuit simulations to mimic fidelity computation on a quantum computer; under noise-aware conditions, these simulations produced less accurate fidelity estimates with higher computational cost than classical computation. As a proof-of-concept, this study provides a complementary view of temporal transcriptome organization, rather than a uniformly superior alternative to conventional methods.

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18.
medRxiv (Medicine) 2026-06-11

Polygenic risk scores associate with asthma phenotypes and proteomic analyses implicate IL1R1 in two family-based studies

作者:
Lee↗Moll↗Mendez↗Prince↗Lasky-Su↗Lutz↗S. M↗Weiss↗S. T↗Lange↗Kelly↗R. S↗…

Despite its high prevalence and the discovery of hundreds of genetic associations, the genetic determinants and heterogeneous manifestations of asthma remain incompletely understood. Incorporating polygenic risk scores (PRS) into asthma research offers a powerful approach to quantify inherited susceptibility, refine risk profiles, and advance mechanistic understanding of disease development. For this study, we leveraged whole-genome sequencing (WGS) data from two family-based cohorts of childhood asthma - the Genetics of Asthma in Costa Rica Study (GACRS) and the Childhood Asthma Management Program (CAMP) - to examine the transmission profiles of externally derived asthma PRS and their associations with clinical phenotypes in children with asthma. To further elucidate molecular mechanisms, we integrated large-scale external genome-wide association study (GWAS) summary statistics and genetic prediction models of protein abundance in a two-step proteome-wide association study (PWAS) of asthma. Our findings provide robust evidence supporting the validity of externally derived asthma PRS (asthma PRS association p-value p={10}^{-24} [GACRS and CAMP trios combined] for the Global Biobank Meta-analysis Initiative [GBMI]) and reveal consistent associations with spirometry measures and atopy markers across both studies, as 13 of 21 traits (62%) were significantly associated with the GBMI-PRS in the meta-analysis after multiple-testing correction. Moreover, the results of the integrative proteomic analysis implicate IL-1 signaling in the etiology of asthma, reinforcing the candidacy of IL1R1 antagonists for drug repurposing.

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19.
arXiv (CS.AI) 2026-06-19

A Deep Generative Model for Resting-State EEG Synthesis and Transferable Representation Learning

作者:
Yeganeh Farahzadi↗Morteza Ansarinia↗Zoltan Kekecs↗

arXiv:2503.02636v5 Announce Type: replace-cross Abstract: Resting-state EEG provides a non-invasive view of spontaneous brain activity, but extracting meaningful patterns is often limited by scarce high-quality data and reliance on manually engineered features. Generative adversarial networks (GANs) can synthesize neural signals and learn transferable representations directly from raw data, a dual capability that remains underexplored in EEG research. Here, we introduce REST-GAN, a GAN-based framework for resting-state EEG that combines adversarial training with an auxiliary self-supervised reconstruction objective to support signal synthesis and unsupervised feature extraction. Although trained only on raw time-domain signals, without explicit frequency-domain or sensor-topographic supervision, the generated time series reproduced key temporal, spectral, and connectivity properties of real EEG. In band-power feature space, generated samples showed high precision and recall across eyes-open and eyes-closed conditions (EO: 0.91/0.67; EC: 0.87/0.65), while group-average spectral coherence matrices showed low mean absolute differences from real data across frequency bands (~0.01-0.03). The representations learned by the model's critic transferred to independent resting-state demographic classification tasks, outperforming models trained directly on raw EEG and showing competitive performance relative to a recent EEG foundation model, while requiring substantially less training data and computational resources. These findings highlight a computationally efficient, architecture-driven strategy in which generative models serve not only as EEG signal generators, but also as unsupervised feature extractors. This approach may support more data-efficient EEG analysis while reducing reliance on manual feature engineering. The implementation code for REST-GAN is available at: https://github.com/Yeganehfrh/REST-GAN.

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20.
PLOS Medicine 2026-05-08

Optimal minimal residual disease threshold in pediatric acute myeloid leukemia: A retrospective cohort study based on the TARGET database

作者:
Xiong-yu Liao↗

by Xiong-yu Liao, Hong Zheng, Jian-pei Fang, Dun-hua Zhou, Kun-yin Qiu Background Minimal residual disease (MRD) monitoring is a cornerstone of risk stratification in pediatric acute myeloid leukemia (AML), with a threshold of 0.1% conventionally defining positivity by flow cytometry. Advances in flow cytometric technologies, enabling detection of leukemic cells with higher sensitivity and specificity, warrant a reevaluation of whether a lower threshold improves prognostic accuracy. Methods and findings We conducted a retrospective cohort study using data from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET)-AML initiative. The study population comprised 1,205 pediatric patients with de novo AML treated across Children’s Oncology Group (COG) clinical trial centers. Patients were enrolled between September 1996 and December 2016, with a median follow-up of 6.2 years (range: 0.5–20.1 years). The primary objective was to compare the prognostic performance of the traditional MRD threshold (≥0.1%) with a lower threshold (≥0.05%) after induction courses 1 and 2. The main outcome measure was 5-year event-free survival (EFS). Analyses included Kaplan−Meier survival estimates, Cox proportional hazards models to calculate hazard ratios (HR) with 95% confidence intervals (CI), receiver operating characteristic (ROC) curves, and net reclassification improvement (NRI). The optimal threshold for predicting 5-year EFS, determined by ROC analysis, was 0.05% after both induction course 1 (AUC: 0.840, 95%CI[0.76,0.88]) and course 2 (AUC: 0.854, 95%CI[0.78,0.89]). The 0.05% threshold demonstrated higher HR for the first event than the 0.1% threshold (after course 1: HR = 2.8, 95%CI[2.3,3.3]; P 

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21.
arXiv (CS.CL) 2026-06-17

E2Vec: Feature Embedding with Temporal Information for Analyzing Student Actions in E-Book Systems

作者:
Yuma Miyazaki↗Valdemar \v{S}v\'abensk\'y↗Yuta Taniguchi↗Fumiya Okubo↗Tsubasa Minematsu↗Atsushi Shimada↗

Digital textbook (e-book) systems record student interactions with textbooks as a sequence of events called EventStream data. In the past, researchers extracted meaningful features from EventStream, and utilized them as inputs for downstream tasks such as grade prediction and modeling of student behavior. Previous research evaluated models that mainly used statistical-based features derived from EventStream logs, such as the number of operation types or access frequencies. While these features are useful for providing certain insights, they lack temporal information that captures fine-grained differences in learning behaviors among different students. This study proposes E2Vec, a novel feature representation method based on word embeddings. The proposed method regards operation logs and their time intervals for each student as a string sequence of characters and generates a student vector of learning activity features that incorporates time information. We applied fastText to generate an embedding vector for each of 305 students in a dataset from two years of computer science courses. Then, we investigated the effectiveness of E2Vec in an at-risk detection task, demonstrating potential for generalizability and performance.

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22.
arXiv (CS.CL) 2026-06-16

It's About Time: Temporal References in Emergent Communication

作者:
Olaf Lipinski↗Adam J. Sobey↗Federico Cerutti↗Timothy J. Norman↗

Emergent communication enables agents to develop bespoke languages that improve communication efficiency. Despite the known importance of temporal structure in natural language, there is no existing evidence of temporal references in emergent communication. This paper addresses this gap, by exploring how agents communicate about temporal relationships. We analyse three potential factors for the emergence of temporal references: environmental, external, and architectural. Our experiments demonstrate that altering the loss function is insufficient for temporal references to emerge; rather, architectural changes are necessary. A minimal change in agent architecture, using a different batching method, allows the emergence of temporal references. This modified design is compared with the standard architecture in a temporal referential games environment, which emphasises temporal relationships. The analysis shows that over 95% of the agents with the modified batching method develop temporal references, without changes to their loss function. We consider temporal referencing necessary for future improvements to the agents' communication efficiency, enabling future agents to use a closer to optimal coding as compared to purely compositional languages. These insights provide the basis for incorporation of temporal references into other emergent communication settings, and investigation of other aspects of language.

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23.
arXiv (CS.CL) 2026-06-19

Vero: An Open RL Recipe for General Visual Reasoning

作者:
Gabriel Sarch↗Linrong Cai↗Qunzhong Wang↗Haoyang Wu↗Danqi Chen↗Zhuang Liu↗

What does it take to build a visual reasoner that works across charts, science, spatial understanding, and open-ended tasks? The strongest vision-language models (VLMs) suggest that broad visual reasoning is within reach, yet their closed data and reinforcement learning (RL) pipelines make their gains difficult to study, reproduce, or extend. We introduce Vero, a family of fully open VLMs that match or exceed existing open-weight models across diverse visual reasoning tasks. We scale RL data and rewards across six broad task categories, constructing Vero-600K, a 600K-sample dataset from 59 datasets, and designing task-routed rewards that handle heterogeneous answers. Across VeroEval, our 30-benchmark suite, Vero-600K outperforms existing RL datasets under controlled comparisons. Applied to five starting models, Vero variants gain 2.9-5.4 points on average over their initial models. Notably, Vero-Qwen3I-8B, trained on the Instruct model, surpasses Qwen3-VL-8B-Thinking by 3.8 points on average without additional distillation. Systematic ablations reveal that different task categories elicit distinct reasoning patterns and that broad gains depend on learning them jointly rather than in isolation. All data, code, and models are publicly available.

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24.
arXiv (quant-ph) 2026-06-17

Demultiplexing Generalized Information via Quantum Transmission Lines

作者:
Soham Sau↗Anna Jen\v{c}ov\'a↗Tamal Guha↗

arXiv:2606.17894v1 Announce Type: new Abstract: Demultiplexers are the fundamental primitives of network architecture, enabling perfect routing of an input classical signal to a designated one, among multiple output ports. Quantum transmission lines, having access to the quantum systems directly, are able to transmit both the classical and quantum information encoded in quantum systems. A natural question therefore emerges that whether the scrambled classical and quantum information in a quantum system can be perfectly demultiplexed in the designated classical and quantum output ports? Here we answer this question by introducing a quantum to quantum-classical device, namely the quantum demultiplexer (Q-DEMUX). We characterize the class of Q-DEMUXs enabling perfect routing of both the classical and the quantum information along with their simple circuit realizations. Our results highlight an explicit connection between the strength of a Q-DEMUX with the incompatibility of quantum instruments. Finally, we extend the notion in a stronger variant where the sender is oblivious regarding the nature of the data to be transmitted through the Q-DEMUX.

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25.
arXiv (CS.CV) 2026-06-16

Learning a Sampling-Free Variational DNN Plugin from Tiny Training Sets to Refine OOD Segmentation With Uncertainty Estimation

作者:
Jimut B. Pal↗Suyash P. Awate↗

Deep neural networks (DNNs) frequently fail to generalize to out-of-distribution (OOD) medical images because of variations in scanners and acquisition protocols. Retraining DNN models to address these distribution shifts is often impractical due to the high cost of acquiring and annotating new medical datasets. To address this, we introduce VarDeepPCA, a novel lightweight variational DNN framework designed to restore/refine degraded segmentation maps by leveraging intrinsic geometric priors. Unlike existing approaches that require target-domain data or extensive pre-training, our VarDeepPCA explicitly learns a distribution of valid anatomical geometries using only small in-distribution (ID) datasets. Theoretically, our novel variational learning framework leverages a reinterpretation of the softmax mapping to implicitly perform exact distribution modeling, thereby enabling computationally efficient, sampling-free learning and inference. This also enables VarDeepPCA to provide uncertainty estimates associated with its restored segmentation maps. We empirically validate our framework across 4 distinct clinical applications, using 14 publicly available datasets, involving segmentation of the myocardium, neuroretinal rim, prostate, and fetal head. Comparisons against 15 existing methods demonstrate that VarDeepPCA consistently restores segmentation maps produced by the existing methods on OOD data to (i) significantly improve anatomical plausibility of geometries and clinical utility of the segmentations, and (ii) significantly reduce errors, without needing any more training data than that used by existing methods.

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