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Qiu, X.

Publications and source records attributed to Qiu, X..

At least 37 records · Page 2Linked to original sources

U-Probe: universal agentic probe design for imaging-based spatial-omics

Probe design for fluorescence in situ hybridization (FISH) underpins spatial transcriptomics, three-dimensional genome studies, and clinical diagnostics, yet remains constrained by two challenges: dependence on expert knowledge for parameter selection and quality evaluation, and the inability of existing tools to accommodate the diverse probe architectures introduced by rapidly emerging methods. Here we present U-Probe, a universal and agentic probe design platform. U-Probe employs a declarative configuration system with a directed acyclic graph (DAG)-based assembly engine that supports arbitrary probe structures from established protocols such as MERFISH, seqFISH, and MiP-seq to entirely novel architectures without code modifications. Integrated LLM-based AI agents enable conversational design workflows, allowing users to specify experimental goals in natural language and receive synthesis-ready probe sequences. We validated U-Probe in three scenarios: agent-driven MiP-seq panel design for influenza-infected mouse lung tissue, genome-tiling DNA-FISH for herpesvirus detection, and a novel RCA-based ligation probe for single-nucleotide mutation discrimination. U-Probe is available as an open-source tool with CLI, Web, and agent interfaces.

bioinformatics↗

Sustained Relief of Chronic Pain via a Nav1.7_Targeting ASO_siRNA Conjugate

Chronic pain affects billions globally, yet safe, long-lasting, and non-addictive analgesics remain lacking. Nav1.7 is a genetically validated pain target, but traditional small molecules have repeatedly failed. Therapeutic oligonucleotides-antisense oligonucleotides (ASOs) and siRNAs-offer selective, durable silencing. We developed N02C0702, an ASO-siRNA conjugate (ASC), achieving robust Nav1.7 knockdown and sustained analgesia without additional delivery vehicles. N02C0702 outperformed individual ASO (N02A114) and siRNA (N02S154) moieties at mRNA and protein levels and in pain relief. In CFA-induced inflammatory pain, a single intrathecal dose exceeded naproxen and suzetrigine, while in SNL neuropathic pain, efficacy persisted up to 56 days, comparable to or surpassing pregabalin. Genome-wide RNA sequencing confirmed minimal off-target effects. N02C0702 highlights Nav1.7 as a key analgesic target and demonstrates the ASC platforms potential for chronic pain and other CNS-related pathologies, offering durable, selective, and safe therapeutic effects.

neuroscience↗

Subcellular transcriptome sequencing with single cell APEX-seq identifies regulators of cell-cell interactions

Single-cell RNA sequencing has transformed our understanding of tissue complexity and heterogeneous cell states, yet provides little information about the subcellular organization of transcriptomes - despite the central role of RNA localization in splicing, translation, and function. Here we introduce single-cell APEX-seq (scAPEX-seq), a proximity labeling-based method for mapping subcellular transcriptomes at single-cell resolution. Improvements in probe design and RNA recovery enable APEX integration with droplet-based RNA-seq to capture endoplasmic reticulum-associated transcripts from thousands of individual cells. Applied to tumor-macrophage co-cultures, ER-targeted scAPEX-seq revealed interaction-dependent cell states and transcriptomic signatures by enriching for cell surface and secretory transcripts that are poorly resolved by conventional scRNA-seq. We further applied scAPEX-seq to short- and long-term co-cultures of HER2+ tumor cells with human chimeric antigen receptor (CAR) T cells, resolving distinct activated CAR T cell states, including populations characterized by upregulated NT5E or CTSW expression. We showed that overexpression of CTSW, a cathepsin protease, in CAR T cells promotes stem-like phenotypes, long-term proliferation, and sustained tumor cell killing. scAPEX-seq provides a powerful and scalable approach for profiling subcellular RNA populations, enabling the discovery of cell-cell interaction regulators missed by conventional approaches.

cell biology↗

Cryo-EM reveals a right-handed double-helix dimer architecture of PCDH15 critical for mechanotransduction

Tip links connect the stereocilia of mechanosensory hair cells in the inner ear and transmit force onto mechanotransduction (MET) channels. Tip links consist of protocadherin 15 (PCDH15) and cadherin 23 (CDH23), which assemble into an extracellular filament approximately 150 nm in length. Rare freeze-etched electron microscopy (EM) images have suggested that tip links could be right-handed double helices in vivo, but direct structural evidence has been lacking. Using cryo-EM we determined the structure of a large part of the extracellular PCDH15 domain. Two PCDH15 molecules form a parallel cis dimer stabilized by several dimerization interfaces, including two strand crossovers and two parallel contacts, yielding a right-handed double helix. Functional studies show that mutations in PCDH15 dimerization-domains impair MET. Our results establish the molecular foundation for how PCDH15 forms a right-handed double helix to enable mechanical sensing.

neuroscience↗

PantheonOS: An Evolvable Multi-Agent Framework for Automatic Genomics Discovery

The convergence of large language model-powered autonomous agent systems and single-cell biology promises a paradigm shift in biomedical discovery. However, existing biological agent systems, building upon single-agent architectures, are narrowly specialized or overly general, limiting applications to routine analyses. We introduce PantheonOS (https://PantheonOS.stanford.edu), an evolvable, privacy-preserving multi-agent framework designed to reconcile generality with domain specificity. Critically, PantheonOS enables agentic code evolution, allowing evolving state-of-the-art batch correction and our reinforcement-learning augmented gene panel selection algorithms to achieve super-human performance. PantheonOS drives biological discoveries across systems: uncovering asymmetric paracrine Cer1-Nodal inhibition in proximal-distal axis formation of novel early mouse embryo 3D data; integrating human fetal heart multi-omics with whole-heart data to reveal molecular programs underpin heart diseases; and adaptively selecting virtual cell models to predict cardiac regulatory and perturbation effects. Together, PantheonOS points towards a future where scientific discoveries are increasingly driven by self-evolving AI systems across biology and beyond. Websitehttps://pantheonos.stanford.edu Ecosystemhttps://github.com/aristoteleo SummaryLarge language model-powered agent systems are driving a paradigm shift in scientific discovery by automating, scaling, and accelerating data analysis. This transformation is particularly profound in biology, where the rapid expansion of single-cell and spatial genomics has effectively reshaped the field into a data-intensive science. However, existing biological agent systems are typically constrained to single-agent designs, are narrowly specialized, or are overly general without sufficient domain expertise, limiting their applicability to routine or shallow analyses. Here, we introduce PantheonOS (https://pantheonos.stanford.edu), an evolvable, privacy-preserving, and general-purpose multi-agent framework designed to reconcile generality with deep domain specificity. PantheonOS provides an abstract, extensible architecture that enables customized agent composition and supports end-to-end single-cell and multi-omics analysis, spanning reinforcement-learning-augmented gene panel design, raw FASTQ processing, multimodal data integration, and three-dimensional spatial genomics reconstruction. Central to this framework, Pantheon-Evolve enables agentic code evolution, allowing the system to autonomously improve state-of-the-art batch-correction algorithms and new reinforcement-learning based gene panel design algorithms, achieving performance beyond manually designed baselines. We demonstrate the power of PantheonOS across multiple biological domains. In early mouse embryogenesis, PantheonOS automatically reconstructs three-dimensional spatial gene expression landscapes and resolves asymmetric Cer1 expression and paracrine Cer1-Nodal inhibition, revealing a robust proximal-distal axis at embryonic day six (E6.0). In human development, PantheonOS integrates fetal heart single-cell multi-omics with whole-heart 3D MERFISH+ data at post-conception week 12, uncovering spatially resolved molecular programs underlying heart disease ontogeny. Finally, an intelligent model-routing mechanism enables PantheonOS to adaptively select optimal virtual cell models across heterogeneous tasks, revealing minimal regulatory networks of cardiogenesis and predicting spatially resolved perturbation effects in the developing heart. Together, PantheonOS establishes a foundation for fully automated, evolvable, and domain-aware agentic analysis in genomics, and points toward a future in which scientific discovery is increasingly driven by self-improving AI systems across biology and beyond.

bioinformatics↗

Universal physical principles govern the deterministic genesis of protein structure

Protein structure is usually treated as the endpoint of sequence by most AI models, yet its true biological emergence is a process of ordered change, whose logic remains hidden in opaque black box. ProtGenesis creates a bidirectional mirror world: it maps amino acid assembly, elongation and mutation in biological space into quantitative trajectories and ensembles in protein language model representation space, then translates spatial geometry into testable biophysical hypotheses. Across peptides, reporter proteins and protein families, three universal general principles emerged: hierarchical directional assembly (Principle I), quantitative and reproducible structural-emergence trajectories (Principle II) and discrete topological transitions (Principle III) from short- to long-range order. Three novel metrics of spatial features [D,{rho} ,{delta} ], complemented by squared Gaussian Wasserstein-2 measures, located structural anchors, sensitive regions and state transitions, enabling split-protein engineering and programmable protein design. ProtGenesis makes latent representations mechanistically interpretable, offering AI a route to discovering, rather than merely predicting, scientific principles. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=173 HEIGHT=200 SRC="FIGDIR/small/706798v2_ufig1.gif" ALT="Figure 1"> View larger version (60K): org.highwire.dtl.DTLVardef@18f690org.highwire.dtl.DTLVardef@e36903org.highwire.dtl.DTLVardef@35f15org.highwire.dtl.DTLVardef@1577b81_HPS_FORMAT_FIGEXP M_FIG C_FIG

bioinformatics↗

A stem cell knockout village reveals lineage rewiring and a non-canonical islet cell fate in monogenic diabetes

Genetics studies have identified a core set of regulators essential for pancreatic {beta} cell development, many of which are mutated in monogenic diabetes. However, how these mutations alter developmental trajectories to produce pathological cell states remains elusive. Here we introduce a knockout village framework that enables longitudinal scRNA-seq profiling of 79 human pluripotent stem cell mutant lines targeting 30 developmental regulators, including 15 diabetes genes, across five islet differentiation stages. We show that loss of lineage regulators impairs {beta} cell formation in a stage-specific manner and rewires developmental trajectories towards competing lineages. Notably, several monogenic diabetes gene mutations drive a shift from {beta} cells to enterochromaffin (EC)-like cells, a recently recognized non-canonical islet cell fate. These EC-like cells exhibit incomplete activation of hormone regulation programs, along with elevated neuron signatures. Leveraging the diversity of cell fate outcomes across mutants, we predicted and experimentally validated ISL1 as a key downstream effector of PDX1 and PAX6 that safeguards {beta} cell identity against an EC-like fate. Together, our findings reveal cell fate rewiring as a widespread, previously underappreciated pathological mechanism in monogenic diabetes and establish a scalable platform for uncovering developmental vulnerabilities in human genetic disorders.

developmental biology↗

Revealing the antibiotic resistome in the global hadal trenches by large-scale cultivation and metagenomics

The global hadal trenches that reside more than 6000 meters below the sea level, represent one of Earths most remote ecosystems, potentially harboring a microbial reservoir for antibiotic resistant bacteria (ARB) and antibiotic resistance genes (ARGs). However, the global hadal environments remain the least investigated ecosystem for ARB/ARG compositions and distribution. This study took three-fold approaches to investigate the ARB/ARGs in the global hadal trench sediments, i.e., large-scale cultivation to isolate and verify ARB/ARGs from Challenger Deep sediments, metagenomic analysis of sediment samples from Challenger Deep over a six-year period, and comparative study of resistomes across six hadal trenches through metagenomic analysis. The Challenger Deep sediments had a consistent average ARG abundance of 0.02 copy/cell over a six-year period, whereas some ARG subtypes fluctuated and showed distinct temporal dynamics. Large-scale screening of ARB via microbial cultivation using 13 classes of antibiotics led to enriching distinct ARB, for which eleven genera were identified by metagenomic sequencing as major host for ARGs. The global hadal trench sediments showed a variable ARG abundance, which was significantly lower than those from environments in proximity to human activities, representing a relatively pristine reservoir. Phylogenetic analysis suggested the hadal ARGs underwent niche-specific selections and formed hadal trench-specific clusters that diverged from human-associated lineages, which can be outward transported when disturbed. The study established the hadal trench sediments, as a relatively pristine reservoir of natural ARGs, providing a crucial environmental baseline for assessing their impacts on the ecosystems and public health risks.

microbiology↗

scFPC-DE: Robust Differential Expression Analysis Along Single Cell Trajectories via Functional Principal Component Analysis

MotivationIdentifying temporally differentially expressed genes (TDEGs) along pseudotime trajectories from single cell RNA sequencing (scRNA-seq) data helps characterize the cellular states that underlie the dynamic process of cellular development. However, existing tests based on generalized additive models (GAMs) suffer from increased false positive rates under zero inflation caused by high dropouts, a ubiquitous technical artifact of scRNA-seq data. Furthermore, by testing each gene independently, existing tests ignore the variance-covariance structure shared across genes along the trajectory, leading to suboptimal power and reduced interpretability. ResultsWe present scFPC-DE, a trajectory-based differential expression analysis (TDEA) method based on functional data analysis (FDA). It models the gene expression as a function of pseudotime in the L2 space and represents the covariance structure of these functions by eigenfunctions derived from functional principal component (FPC) analysis. This approach effectively captures informative gene expression patterns along the trajectory, while mitigating the influence of zero inflation in both simulation and real data analysis. In simulations, scFPC-DE exhibited superior control of type I error and achieved the highest ROC-AUC among competing methods. When applied to an scRNA-seq dataset of B cell subtypes, scFPC-DE uniquely identified TDEGs enriched for B cell differentiation pathways, outperforming existing methods in biological relevance. These results show that scFPC-DE effectively captures the shared gene expression variation and pseudo-temporal structure along the single cell trajectory for TDEG identification. AvailabilityR package and code vignettes are publicly available at https://github.com/LopezRicardo1/scFPCDE. Contactxing_qiu@urmc.rochester.edu; yun.zhang@nih.gov. Supplementary informationSupplementary data are available at Bioinformatics online

bioinformatics↗

MERFISH+, a large-scale, multi-omics spatial technology resolves the molecular holograms of the 3D human developing heart

Hybridization-based spatial transcriptomics technologies have advanced our ability to map cellular and subcellular organization in complex tissues. However, existing methods remain constrained in gene coverage, multimodal compatibility, and scalability. Here, we present MERFISH+, an enhanced version of Multiplexed Error-Robust Fluorescence in Situ Hybridization (MERFISH), which integrates chemical probe anchoring in protective hydrogels with high-throughput microfluidics and microscopy. This optimized design supports robust and repeated hybridization cycles across an entire centimeter-scale tissue sample. MERFISH+ allowed to simultaneously quantify over 1,800 genes and resolve the 3D organization of chromatin loci and their associated epigenomic marks in developing human hearts. Using a generative integration framework for spatial multimodal data (Spateo-VI), we harmonized these MERFISH+ transcriptomic and chromatin data to reconstruct a 3D spatially-resolved multi-omic atlas of the developing human heart at subcellular resolution capturing 3.1 million cells across 34 distinct populations. This 3D atlas provides a holistic view of an entire organ enabling the characterization of 3D cellular neighborhoods and transcriptional gradients of substructures such as the descending arteries. Thus, MERFISH+ offers a robust, large-format platform for spatial multi-omics that enables high resolution mapping of gene expression at subcellular resolution and the characterization of cellular organization within 3D organs. One Sentence SummaryMERFISH+ is an spatial multi-omics platform that integrates hydrogel-based probe anchoring, automated high-throughput microfluidics, and large-format multimodal data production to enable comprehensive, subcellular resolution mapping of gene expression and chromatin organization across millions of cells within complex developing human organs. HighlightsO_LIMERFISH+ expands MERFISH capabilities to measure >1,800 genes and at whole-organ 3D imaging scale C_LIO_LICombines chemical probe anchoring with high-throughput volumetric microscopy and microfluidics C_LIO_LIGenerates a 3D molecular atlas of a developing human heart with > 3.1 million cells at subcellular resolution C_LIO_LIIntroduces Spateo-VI, a novel generative framework integrating 3D multimodal datasets C_LI

genomics↗

Atypical activation and molecular glue-like dimerization mechanism of an intrinsically-biased chemokine receptor

CXCR7, also known as atypical chemokine receptor 3 (ACKR3), is a naturally-biased, {beta}-arrestin-coupled seven transmembrane receptor (7TMR) that lacks productive coupling with heterotrimeric G-proteins. Despite a critical involvement in cancer metastasis, cardiovascular pathophysiology, and inflammatory disorders, the molecular basis of non-canonical activation and functional divergence of CXCR7 remains elusive. Here, we present a complete landscape of CXCR7 activation using a series of cryo-EM structures, and discover an atypical activation mechanism that is distinct from prototypical GPCRs. CXCR7 is maintained in a basal conformation by a unique tripartite ionic-lock involving TM5-TM6, in contrast to a broadly conserved TM3-TM6 ionic-lock in GPCRs, which is disrupted upon receptor activation. Importantly, activation of CXCR7 results in a constricted pocket and distinct surface topology on the intracellular side compared to prototypical GPCRs. Serendipitously, we capture novel dimeric arrangements of CXCR7 with an inter-protomer stitching by a native phospholipid serving as a molecular glue, and identify previously unanticipated extrahelical allosteric sites on the receptor. Surprisingly, in an intermediate state structure of CXCR7, the second extracellular loop (ECL2) displays a self-blocking conformation, in stark contrast to ECL2-mediated self-activating mechanism reported recently for some orphan GPCRs. Finally, we unequivocally establish CXCR7 as an atypical opioid receptor via a large peptide library screening and structure elucidation in complex with distinct opioid peptides imparting full receptor activation. In summary, our study elucidates an atypical mechanism of CXCR7 activation, and establishes it as an alternative, non-canonical opioid receptor target with potential for novel pain therapeutics.

biochemistry↗

Targeting the host factor HGS-viral membrane protein interaction in coronavirus infection

While current antivirals primarily target viral proteins, host-directed strategies remain underexplored. Here, we performed a genome-wide CRISPRi screening to identify the host protein, Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate (HGS), as essential for the pan-coronaviruses infection both in vitro and in vivo. Mechanistically, HGS directly interacts with the viral membrane (M) protein, facilitating its trafficking to the ER-Golgi intermediate compartment (ERGIC) for virion assembly. Conversely, HGS deficiency caused M retention in the ER, blocking assembly. Leveraging this interaction, we designed M-derived peptides and screened over 5,000 FDA-approved drugs, identifying riboflavin tetrabutyrate (RTB). Both the peptides and RTB bind HGS and disrupt its interaction with the M protein, leading to M retention in the ER and subsequent blockade of virion assembly. These agents demonstrated broad anti-pan-coronavirus activity in vitro and in vivo. Collectively, our findings establish HGS as a druggable host target and identify RTB as a promising broad-spectrum antiviral candidate.

microbiology↗

Reprogramming Factors Activate a Non-Canonical Oxidative Resilience Pathway That Can Rejuvenate RPEs and Restore Vision

Oct4, Sox2, and Klf4 (OSK) Yamanaka factors induce pluripotency and reverse age-related epigenetic changes, yet the mechanisms by which they promote rejuvenation remain poorly explored. Oxidative stress contributes to CNS aging and retinal pigmented epithelium (RPE) degeneration in age-related macular degeneration. We find that OSK expression in RPE restores retinal structure and visual function in aged mice and promotes oxidative resilience through a non-canonical, Tet2-independent pathway. Integrative functional genomics identifies GSTA4, a detoxifying enzyme that clears the lipid peroxidation byproduct 4-HNE, as a necessary and sufficient OSK effector. Dynamic GSTA4 regulation by OSK recapitulates a stem cell derived stress resilience program. GSTA4 overexpression alone enhances mitochondrial resilience, rejuvenates the aged RPE transcriptome, and reverses visual decline. GSTA4 is consistently upregulated across diverse lifespan-extending interventions suggesting a broader pro-longevity role. These findings uncover a previously unrecognized protective axis driven by Yamanaka factors that circumvents reprogramming, providing therapeutic insights for age-related diseases. HIGHLIGHTSO_LIOSK-GSTA4 provides a dynamic, Tet2-independent stress-resilience axis. C_LIO_LIFunctional genomics pinpoints GSTA4 as a direct downstream effector activated by OSK. C_LIO_LIRPE aging involves progressive accumulation of 4-HNE that can be detoxified by GSTA4. C_LIO_LIEnhancing GSTA4 rejuvenates RPE cells, restores vision and is associated with lifespan-extending interventions. C_LI

genetics↗

EZH2-TTP-mTORC1 Axis Drives Phenotypic Plasticity and Therapeutic Vulnerability in Lethal Prostate Cancer

Phenotypic plasticity is a recognized mechanism of therapeutic resistance in prostate cancer (PCa), however current knowledge of driver mechanisms and therapeutic interventions are limited. Using genetically engineered mouse models (GEMMs) devoid of Pten and Rb1, we previously demonstrated the chromatin reprogramming factor enhancer of zeste homolog 2 (EZH2) as an important regulator of alternative transcription programs promoting phenotypic plasticity. Here, using a multi-omics approach we demonstrate that EZH2 regulates multilineage cell states dependent on the RNA binding protein Tristetraprolin (TTP) that mediates RNA stability and activation of translation. Combined chemical inhibition of EZH2 and PI3K/mTORC1 resulted in superior anti-tumor activity in murine and human phenotypic plastic models and was most significant when this combination was used with castration or enzalutamide. Together, these data indicate phenotypic plasticity dependence on coordination between EZH2, TTP and mTORC1 signaling that represent novel therapeutic dependencies for this lethal PCa phenotype. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=194 SRC="FIGDIR/small/669104v1_ufig1.gif" ALT="Figure 1"> View larger version (66K): org.highwire.dtl.DTLVardef@5ef713org.highwire.dtl.DTLVardef@af402forg.highwire.dtl.DTLVardef@19eedcforg.highwire.dtl.DTLVardef@10ee421_HPS_FORMAT_FIGEXP M_FIG C_FIG Significance StatementEZH2 plays a key role in driving cell state transitions in neuroendocrine prostate cancer (NEPC), guiding cancer cells towards a more aggressive, therapy-resistant cell type. This transformation creates a specific vulnerability, as NEPC cells become highly reliant on both EZH2 and PI3K/mTORC1-translation signaling. Targeting this dependency, we demonstrate that combining EZH2 with PI3K/mTORC1 inhibition provides effective suppression of NEPC cell growth, offering a promising therapeutic strategy for treating this challenging and aggressive prostate cancer subtype.

cancer biology↗

A Spatial and Temporal Transcriptomic Atlas of Mouse Intestinal Regeneration

Background & AimsThe intestinal epithelium exhibits a remarkable capacity for regeneration following injury. However, the spatial and temporal dynamics of the injury-repair cycle remain incompletely understood. MethodsWe employ spatial transcriptomics to create an atlas of the damage and repair response to ionizing radiation in the mouse intestine. We map molecular events driving epithelial recovery over a six-day period and 23 biological samples, spanning the early apoptotic response to tissue remodeling and repair. ResultsThe datasets capture mRNA of 19,042 genes in [~]26 million bins at 2{micro}m resolution. Analysis revealed transcriptional patterns and niche signals that would remain undetected in bulk or single-cell approaches, including a non-random activation of interferon-target genes. Temporal shifts in cytokine and growth factor gene expression, particularly in the crypt and lower villus regions, corroborate published studies and reveal new predictions of the mechanisms governing intestinal healing. Global transcriptional upregulation was observed in the regenerating epithelium, suggesting hypertranscription is a hallmark of intestinal repair. Furthermore, we observe altered cellular differentiation trajectories and villus patterning at the early stages of regeneration. ConclusionsTogether, our work provides a detailed spatiotemporal map of intestinal regeneration at subcellular resolution and nearly whole-genome scale. These data lay the groundwork for future discoveries and therapeutic strategies to enhance epithelial repair in inflammatory bowel diseases and other gastrointestinal pathologies or in response to side-effects of cancer therapies.

molecular biology↗

A high-quality bread wheat genome unravels adaptive evolution of wheat end-use quality

Understanding the genetics of superior dough performance is essential for improving wheat end-use quality. Here, we presented a de novo assembly of the genome of JM44, a Chinese wheat cultivar known for its exceptional end-use quality. The JM44 genome achieved reference-level quality (QV = 66.74), depicting a complete picture of complex regions containing gluten genes. Our microsynteny analysis across the Triticum-Aegilops complex showed that high-molecular-weight glutenin subunits (HMW-GSs) loci are highly conserved, while low-molecular-weight glutenin subunits (LMW-GSs) and -/{beta}-gliadins exhibited greater structural variation. These variable loci appear to have been preferentially selected by humans and contributed substantially to the evolution of wheat quality traits. Moreover, we observed that epistatic interactions between gluten genes are strong in modern cultivars, but markedly weaker in landraces, indicating the importance of epistatic selection during modern breeding. Our findings shed light on the genomics and evolution of wheat quality traits, providing valuable guidance for future breeding efforts.

genomics↗

DANCE 2.0: Transforming single-cell analysis from black box to transparent workflow

Preprocessing is a critical step in single-cell data analysis, yet current practices remain largely a black-box, trial-and-error process driven by user intuition, legacy defaults, and ad hoc heuristics. The optimal combination of steps such as normalization, gene selection, and dimensionality reduction varies across tasks, model architectures, and dataset characteristics, hindering reproducibility and method development. We present DANCE 2.0, an automated and interpretable preprocessing platform featuring two key modules: the Method-Aware Preprocessing (MAP) module, which discovers optimal pipelines for task-specific methods via hierarchical search, and the Dataset-Aware Preprocessing (DAP) module, which recommends pipelines for new datasets via similarity-based matching to a reference atlas. Together, MAP and DAP execute over 325,000 pipeline searches across six major tasks - clustering, cell type annotation, imputation, joint embedding, spatial domain identification, and cell type deconvolution - yielding robust and generalizable recommendations. MAP-recommended pipelines consistently outperform original method defaults, with substantial gains across all tasks. Beyond automation, DANCE 2.0 reveals interpretable preprocessing patterns across tasks, methods, and datasets, transforming preprocessing into a transparent, data-driven process. All resources are openly available at https://github.com/OmicsML/dance to support broad community adoption and future methodological advances.

bioinformatics↗

EED Maintains the Small Cell Lung Cancer Neuroendocrine Phenotype and Drives Lung Cancer Histological Transformation

Lung cancer histological subtypes include lung adenocarcinoma (LUAD) and small cell lung cancer (SCLC). While typically distinct, combined LUAD/SCLC histology tumors occur, and LUAD can transform into SCLC as a resistance mechanism to targeted therapies, especially in EGFR-Mutant LUADs with RB1/TP53-inactivation. Although PRC2 complex expression increases during this transformation, its functional role has remained unclear. Using CRISPR-based autochthonous immunocompetent GEMMs, we demonstrate that inactivation of EED, the core PRC2 scaffolding subunit, impairs SCLC tumorigenesis and drives histological transformation from ASCL1-positive SCLC to LUAD through a transient NEUROD1-positive intermediate state. Mechanistically, EED loss de-represses bivalent genes co-marked by H3K27me3 and H3K4me3, including LUAD oncogenic RAS, PI3K, and MAPK pathway genes, to promote transformation to LUAD. Consistently, these same signaling genes are bivalently repressed in human SCLC patient-derived xenograft (PDX) tumors, suggesting a conserved PRC2-dependent mechanism to repress LUAD lineage oncogenic signaling to maintain the SCLC neuroendocrine identity. In a complementary EGFR-mutant LUAD GEMM with RB1/TP53 inactivation, EED was required for LUAD-to-SCLC transformation and distant metastasis upon EGFR withdrawal. These findings identify the PRC2 complex as a key epigenetic enforcer of SCLC neuroendocrine identity and nominate EED inhibition as a potential strategy to block SCLC transformation in high-risk LUAD.

cancer biology↗