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Received — 8 April 2026 ⏭

RDFace: A Benchmark Dataset for Rare Disease Facial Image Analysis under Extreme Data Scarcity and Phenotype-Aware Synthetic Generation

✇cs.AI, q-bio.NC updates on arXiv.org
By: Ganlin Feng · Yuxi Long · Hafsa Ali · Erin Lou · Fahad Butt · Qian Liu · Yang Wang · Pingzhao Hu
7 April 2026 at 12:00
arXiv:2604.03454v1 Announce Type: cross Abstract: Rare diseases often manifest with distinctive facial phenotypes in children, offering valuable diagnostic cues for clinicians and AI-assisted screening systems. However, progress in this field is severely limited by the scarcity of curated, ethically sourced facial data and the high similarity among phenotypes across different conditions. To address these challenges, we introduce RDFace, a curated benchmark dataset comprising 456 pediatric facial images spanning 103 rare genetic conditions (average 4.4 samples per condition). Each ethically verified image is paired with standardized metadata. RDFace enables the development and evaluation of data-efficient AI models for rare disease diagnosis under real-world low-data constraints. We benchmark multiple pretrained vision backbones using cross-validation and explore synthetic augmentation with DreamBooth and FastGAN. Generated images are filtered via facial landmark similarity to maintain phenotype fidelity and merged with real data, improving diagnostic accuracy by up to 13.7% in ultra-low-data regimes. To assess semantic validity, phenotype descriptions generated by a vision-language model from real and synthetic images achieve a report similarity score of 0.84. RDFace establishes a transparent, benchmark-ready dataset for equitable rare disease AI research and presents a scalable framework for evaluating both diagnostic performance and the integrity of synthetic medical imagery.

TSPO: Breaking the Double Homogenization Dilemma in Multi-turn Search Policy Optimization

✇cs.AI, q-bio.NC updates on arXiv.org
By: Shichao Ma · Zhiyuan Ma · Ming Yang · Xiaofan Li · Xing Wu · Jintao Du · Yu Cheng · Weiqiang Wang · Qiliang Liu · Zhengyang Zhou · Yang Wang
7 April 2026 at 12:00
arXiv:2601.22776v2 Announce Type: replace Abstract: Multi-turn tool-integrated reasoning enables Large Language Models (LLMs) to solve complex tasks through iterative information retrieval. However, current reinforcement learning (RL) frameworks for search-augmented reasoning predominantly rely on sparse outcome-level rewards, leading to a "Double Homogenization Dilemma." This manifests as (1) Process homogenization, where the thinking, reasoning, and tooling involved in generation are ignored. (2) Intra-group homogenization, coarse-grained outcome rewards often lead to inefficiencies in intra-group advantage estimation with methods like Group Relative Policy Optimization (GRPO) during sampling. To address this, we propose Turn-level Stage-aware Policy Optimization (TSPO). TSPO introduces the First-Occurrence Latent Reward (FOLR) mechanism, allocating partial rewards to the step where the ground-truth answer first appears, thereby preserving process-level signals and increasing reward variance within groups without requiring external reward models or any annotations. Extensive experiments demonstrate that TSPO significantly outperforms state-of-the-art baselines, achieving average performance gains of 24% and 13.6% on Qwen2.5-3B and 7B models, respectively. Code is available at https://github.com/Flipped-May/TSPO.

Vision-as-Inverse-Graphics Agent via Interleaved Multimodal Reasoning

✇cs.AI, q-bio.NC updates on arXiv.org
By: Shaofeng Yin · Jiaxin Ge · Zora Zhiruo Wang · Chenyang Wang · Xiuyu Li · Michael J. Black · Trevor Darrell · Angjoo Kanazawa · Haiwen Feng
7 April 2026 at 12:00
arXiv:2601.11109v3 Announce Type: replace-cross Abstract: Vision-as-inverse-graphics, the concept of reconstructing images into editable programs, remains challenging for Vision-Language Models (VLMs), which inherently lack fine-grained spatial grounding in one-shot settings. To address this, we introduce VIGA (Vision-as-Inverse-Graphics Agent), an interleaved multimodal reasoning framework where symbolic logic and visual perception actively cross-verify each other. VIGA operates through a tightly coupled code-render-inspect loop: synthesizing symbolic programs, projecting them into visual states, and inspecting discrepancies to guide iterative edits. Equipped with high-level semantic skills and an evolving multimodal memory, VIGA sustains evidence-based modifications over long horizons. This training-free, task-agnostic framework seamlessly supports 2D document generation, 3D reconstruction, multi-step 3D editing, and 4D physical interaction. Finally, we introduce BlenderBench, a challenging visual-to-code benchmark. Empirically, VIGA substantially improves accuracy compared with one-shot baselines in BlenderGym (35.32%), SlideBench (117.17%) and our proposed BlenderBench (124.70%).

Integrative Multi-Omics and Single-Cell Analysis Reveal THOC3 and THOC7 as Oncogenic RNA Processing Regulators in Lung Adenocarcinoma

✇(Multiomics OR Omics) AND (Lung OR gastric OR Hepatocellular)
By: Sachin Kumar · Chung-Che Wu · Dahlak Daniel Solomon · Meng-Chi Yen · I-Jeng Yeh · Ching-Chung Ko · Do Thi Minh Xuan · Kai-Fu Chang · Hui-Ru Lin · Hung-Yun Lin · Chia-Lung Shih · Jian-Bin Chen · Wei-Yi Lee · Chih-Yang Wang · Yung-Kuo Lee · Ngoc Uyen Nhi Nguyen
6 April 2026 at 18:00

Int J Med Sci. 2026 Mar 9;23(4):1408-1430. doi: 10.7150/ijms.128975. eCollection 2026.

ABSTRACT

Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality worldwide. Although the transcription-export (TREX) complex plays a central role in RNA maturation and nuclear export, the clinical and biological relevance of individual THO Complex Subunit (including THOC1, THOC2, THOC3, THOC5, THOC6, and THOC7) in LUAD is not well defined. We performed integrative analyses combining bulk transcriptomics from TCGA/GTEx and independent GEO cohorts, survival modeling, DNA methylation profiling, protein-level annotation from public resources, protein-protein interaction network analysis, immune infiltration estimation (TIMER), and single-cell RNA sequencing (scRNA-seq) to evaluate the relevance of THOC3 and THOC7 in LUAD. Across TCGA and external GEO validation datasets, THOC3 and THOC7 were consistently upregulated in LUAD and associated with poorer overall and disease-free survival, whereas other THO complex members showed weaker or inconsistent associations. Given these comparatively consistent and reproducible signals, we therefore prioritized THOC3 and THOC7 for downstream multi-layer analyses. Epigenetic profiling and interaction network analyses placed both genes within conserved RNA processing and export programs linked to genome maintenance pathways. Single-cell transcriptomic analysis provided additional resolution, demonstrating predominant enrichment of THOC3 and THOC7 in malignant epithelial clusters, with THOC3 aligning with transcriptional programs associated with DNA replication and repair, and THOC7 with proliferative and checkpoint-related states. Notably, expression of both genes was also detectable in myeloid and neutrophil subsets, and THOC7 expression remained elevated in recurrent LUAD samples, indicating association with aggressive and treatment-resistant disease states. Collectively, by integrating bulk, single-cell, epigenetic, and immune profiling across multiple independent cohorts, this study identifies THOC3 and THOC7 as reproducible molecular correlates of aggressive LUAD phenotypes. These highlight dysregulated RNA export programs as potential biomarkers of poor prognosis and motivate future functional studies to assess RNA export dependencies in LUAD.

PMID:41938520 | PMC:PMC13048885 | DOI:10.7150/ijms.128975

Integrative Multi-Omics and Single-Cell Analysis Reveal THOC3 and THOC7 as Oncogenic RNA Processing Regulators in Lung Adenocarcinoma

✇Omics In Lung
By: Sachin Kumar · Chung-Che Wu · Dahlak Daniel Solomon · Meng-Chi Yen · I-Jeng Yeh · Ching-Chung Ko · Do Thi Minh Xuan · Kai-Fu Chang · Hui-Ru Lin · Hung-Yun Lin · Chia-Lung Shih · Jian-Bin Chen · Wei-Yi Lee · Chih-Yang Wang · Yung-Kuo Lee · Ngoc Uyen Nhi Nguyen
6 April 2026 at 18:00

Int J Med Sci. 2026 Mar 9;23(4):1408-1430. doi: 10.7150/ijms.128975. eCollection 2026.

ABSTRACT

Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality worldwide. Although the transcription-export (TREX) complex plays a central role in RNA maturation and nuclear export, the clinical and biological relevance of individual THO Complex Subunit (including THOC1, THOC2, THOC3, THOC5, THOC6, and THOC7) in LUAD is not well defined. We performed integrative analyses combining bulk transcriptomics from TCGA/GTEx and independent GEO cohorts, survival modeling, DNA methylation profiling, protein-level annotation from public resources, protein-protein interaction network analysis, immune infiltration estimation (TIMER), and single-cell RNA sequencing (scRNA-seq) to evaluate the relevance of THOC3 and THOC7 in LUAD. Across TCGA and external GEO validation datasets, THOC3 and THOC7 were consistently upregulated in LUAD and associated with poorer overall and disease-free survival, whereas other THO complex members showed weaker or inconsistent associations. Given these comparatively consistent and reproducible signals, we therefore prioritized THOC3 and THOC7 for downstream multi-layer analyses. Epigenetic profiling and interaction network analyses placed both genes within conserved RNA processing and export programs linked to genome maintenance pathways. Single-cell transcriptomic analysis provided additional resolution, demonstrating predominant enrichment of THOC3 and THOC7 in malignant epithelial clusters, with THOC3 aligning with transcriptional programs associated with DNA replication and repair, and THOC7 with proliferative and checkpoint-related states. Notably, expression of both genes was also detectable in myeloid and neutrophil subsets, and THOC7 expression remained elevated in recurrent LUAD samples, indicating association with aggressive and treatment-resistant disease states. Collectively, by integrating bulk, single-cell, epigenetic, and immune profiling across multiple independent cohorts, this study identifies THOC3 and THOC7 as reproducible molecular correlates of aggressive LUAD phenotypes. These highlight dysregulated RNA export programs as potential biomarkers of poor prognosis and motivate future functional studies to assess RNA export dependencies in LUAD.

PMID:41938520 | PMC:PMC13048885 | DOI:10.7150/ijms.128975

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