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#生物标志物

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Oct 15Thu
  1. biorxiv.org42

    Tobacco Carcinogen Induces Persistent DNA Damage and Homologous Recombination Dysregulation in Pancreatic Ductal Carcinogenesis

    The tobacco carcinogen NNK produces a biphasic DNA damage response in human pancreatic ductal epithelial cells: 5 days of exposure induced double-strand breaks with ATM-γH2AX activation and RAD51/BRCA2 recruitment, while 50 days caused persistent damage signaling, upregulation of HR genes (RAD51, BRCA1, BRCA2, FANCD2, PLK1), altered RAD51 localization, and chromosomal instability. In human PDAC tissue microarrays and TCGA-PAAD data, increased γH2AX correlated with tumor progression and poor overall survival, and elevated RAD51 with adverse outcomes, positioning γH2AX as a candidate prognostic biomarker in tobacco-associated PDAC.

  2. doi.org41

    Dynamic changes of claudin 18.2 expression after systemic therapy in gastric and esophagogastric junction cancer

    Claudin 18.2 (CLDN18.2) expression in advanced gastric/esophagogastric junction adenocarcinoma changes frequently during systemic therapy. In paired samples from 155 patients, positivity rose from 54 (34.84%) before treatment to 61 (39.35%) after (p < .001); overall, 131 patients (84.52%) showed altered expression. Conversion rates did not differ between chemotherapy alone and chemotherapy plus immunotherapy, supporting CLDN18.2 reassessment before targeted therapy.

  3. medrxiv.org40

    Choroid plexus asymmetry on routine MRI as an imaging signature of breast cancer brain metastasis

    Choroid plexus asymmetry on routine contrast-enhanced brain MRI is associated with breast cancer brain metastasis. In 1,000 women with breast cancer, 190 with brain metastasis, a deep-learning-derived Choroid Plexus Asymmetry Index was elevated in metastasis cases (median 0.088 vs 0.059; adjusted OR 1.58 per +1 SD, 95% CI 1.32-1.88), independent of peripheral inflammation markers, histological grade, tumour laterality and metastasis side. Total choroid plexus volume did not differ between groups, pointing to asymmetry rather than size as the relevant signature.

Oct 14Wed
  1. Nat Med69

    A health-system-scale, episode-resolved multimodal atlas of cancer cachexia.

    Longitudinal clinicogenomic data from 52,236 patients with cancer profiled by MSK-IMPACT (2010-2024) show that cachectic weight loss episodes cluster near disease progression, worsen outcomes across nearly all cancer types, and carry a consistent serologic signature of lower albumin and hemoglobin with higher liver enzymes. Tumor genotypes including TP53 mutation were linked to more frequent episode onset. A model predicting impending cachectic weight loss in lung, colorectal and prostate cancer was validated in an external Dana-Farber cohort of 5,785 patients.

    Why it matters: It shows routine clinicogenomic data can identify cachexia drivers and predict weight loss risk at health-system scale.

  2. nature.com50

    Personalized neoantigen-targeting cancer vaccines in ovarian cancer: a phase 1 trial

    Personalized neoantigen vaccines combined with PD-1 blockade were feasible in patients with high-grade serous ovarian cancer in a phase 1 trial. Many patients mounted tumor-specific immune responses. Cell-free DNA analysis identified putative resistance mechanisms related to antigen presentation. The trial establishes feasibility of this approach in ovarian cancer and points to antigen presentation as a resistance pathway.

  3. medrxiv.org41

    MRI Biomarkers for Brain Metastases in Lung Cancer Using Machine Learning

    MRI-derived radiomic features improved prognostic stratification beyond clinical variables in 103 patients with brain metastases from lung cancer. The combined clinical-imaging DeepSurv model reached a concordance index of 0.728 for overall survival, and risk groups separated median overall survival at 26.7 versus 9.1 months. Imaging-only high-risk patients were less likely to have tumor-infiltrating lymphocytes and PD-L1 expression of at least 50%, linking the biomarkers to the tumor immune microenvironment.

  4. biorxiv.org57

    An RFX-driven ciliogenic cell state defines ex vivo FGFR-inhibitor sensitivity in colorectal cancer

    An RFX-driven ciliogenic cell state marked by upregulation of cilia-related genes predicts selective sensitivity to the FGFR inhibitor erdafitinib in colorectal cancer. Image-based ex vivo drug profiling with matched transcriptomics of 127 patient biopsies linked the signature to poor progression-free survival (hazard ratio 2.28; adjusted p=0.0098), even in early-stage disease, and knockdown of RFX2 and RFX3 attenuated erdafitinib sensitivity. The work offers a patient-stratified route to FGFR inhibition beyond current CRC treatment paradigms.

  5. biorxiv.org50

    PIEZO1 marks a low neuroendocrine state and supports cisplatin tolerance in small cell lung cancer

    PIEZO1 marks a low neuroendocrine cell state and supports cisplatin tolerance in small cell lung cancer. Its upregulation accompanied loss of NE markers in chemoresistant H69AR cells, with reduced cisplatin sensitivity in H446DDP cells, and patient multiomics, single-cell and spatial data linked PIEZO1 to low NE activity. PIEZO1 depletion lowered cisplatin IC50 and raised drug-induced apoptosis, while Yoda1 increased calcium signals and cisplatin tolerance, supporting an actomyosin-YAP-linked mechanism.

  6. biorxiv.org51

    CCR2 is a potential biomarker and therapeutic target in Group 3 medulloblastoma

    High CCR2 expression correlates with dissemination and reduced survival in Group 3 medulloblastoma, across 1094 primary tumor samples, and CCR2 protein rises in recurrent/metastatic tumors versus paired primaries. Overexpression of CCR2 in ONS76 and UW228 cells drove proliferation and migration, and CCR2-driven mouse xenografts showed aggressive disease and decreased survival. The CCR2 antagonist Cenicriviroc suppressed CCR2-mediated signaling and showed therapeutic efficacy against established tumors in vivo.

  7. biorxiv.org41

    Spatial transcriptomics reveals interferon pathway enrichment in early relapsing serous carcinoma

    Spatial transcriptomics of matched treatment-naive adnexal and omental tumors from nine high-grade serous carcinoma patients found that short platinum-free interval tumors show an interferon-driven inflammatory phenotype at both sites. C3, IFI27 and BST2 were consistently associated with short PFI across sites and validated by RNA in-situ hybridization; in two public ovarian cancer cohorts, high C3 expression was significantly associated with shorter platinum-free survival. The work nominates C3 as a candidate prognostic biomarker and potential therapeutic target.

  8. medrxiv.org52

    Beyond ERBB2 amplification: RNA and proteomic HER2 assessment for pan-tumor treatment stratification

    RNA-based and proteomic HER2 screening identified HER2-enriched tumors beyond ERBB2 amplification in a pan-tumor cohort of 1,331 biopsies, with validation in 3,898 external biopsies. All six objective responses among 51 treated patients occurred in tumors positive by ERBB2 mRNA and the combined RNA-signature. ERBB2 mRNA positivity was linked to longer time on treatment (hazard ratio 0.42) and overall survival (0.41), supporting prospective evaluation for treatment selection.

Oct 13Tue
  1. biorxiv.org51

    Spatial context of cellular heterogeneity in triple-negative breast cancer reveals actionable subtypes

    Bulk and spatial transcriptomics with cellular mapping of breast tissue from a large patient cohort identified three reproducible TNBC ecosystem subtypes with distinct spatial tumor-microenvironment architectures and treatment-response phenotypes: an immune-exhausted subtype associated with immune checkpoint therapy, a fibrotic/hypoxic subtype, and a metabolically reprogrammed subtype driven by nuclear-receptor and fatty-acid signaling. Multiplexed imaging independently confirmed the immune-infiltrated versus stromal-excluded architectures, and subtype-specific markers offer a basis for subtyping and candidate therapeutic vulnerabilities.

  2. biorxiv.org44

    Pan-cancer remodeling of reactive oxygen species homeostasis: distinct roles of the ROS-generation and antioxidant arms in immune context and outcome

    Pan-cancer analysis of a 107-gene ROS program shows both ROS-generation and antioxidant arms are coordinately up-regulated in tumors, but carry distinct meanings. The composite balance score tracked reduced immune infiltration, driven by low generation-arm activity in immune-cold tumors, while adverse outcome was attributable to the antioxidant arm and generation was null. In cohort-held-out validation, redox programs outperformed generic programs in separating tumors from adjacent normal tissue across cancer types.

  3. nature.com66

    Characterizing the onset and progression of cancer cachexia using routine clinical data

    In 52,236 patients with cancer, cachectic weight loss episodes coincided with disease progression, were linked to lower survival rates, and shared a consistent serological signature across routine laboratory markers. TP53 mutations and other specific tumor genotypes were positively associated with cachexia risk, and statistical models were trained to predict impending cachexia risk.

    Why it matters: Links routine clinical data to cachexia onset and progression at scale, with a predictive model clinicians could use.

  4. medrxiv.org48

    Methylation-defined tumour subgroups guide recognition of genetic predisposition in Wilms tumour

    DNA methylation profiling of 138 Wilms tumours identified five molecular clusters that capture predisposition-associated heterogeneity, including a distinct WT1-driven subgroup. Cluster-guided reanalysis uncovered previously unrecognised WT1 pathogenic variants, one of which led to surveillance enrolment, and a random forest classifier predicted WT1-driven tumours with ~90% accuracy in independent validation cohorts. Tumour methylation profiling can thus guide targeted variant reanalysis and reveal germline variants missed by standard diagnostics.

    Why it matters: Because it shows tumour methylation can flag germline predisposition that standard diagnostic workflows miss.

Oct 12Mon
  1. nature.com63

    A health-system-scale, episode-resolved multimodal atlas of cancer cachexia

    A multimodal atlas of cancer cachexia built from longitudinal data on 52,236 patients with cancer shows that weight loss episodes are linked to systemic serologic signatures and specific tumor genotypes. Integrated clinical and molecular data predicted these episodes, enabling earlier identification of cachexia.

    Why it matters: Health-system-scale evidence that cachexia weight loss episodes are molecularly linked and predictable.

Oct 11Sun
  1. biorxiv.org71

    Massively scaled variant effect mapping across the MAPK pathway reveals the importance of molecular and cellular context

    Variant effect mapping of 186,676 variants across 17 RAS-MAPK pathway proteins in human cells, totaling 503,099 measurements of protein abundance and pathway activity, revealed 14,412 dominant negative variants across 12 proteins, nearly all previously unknown and depleted from the human population. HSP90 inhibition experiments showed HSP90 shapes the effect of 67% of missense variants across the pathway. The data also resolved how the KRAS switch II helix surface accommodates overlapping LZTR1 and SOS1 interactions through distinct allosteric networks.

    Why it matters: Because it shows cellular context, especially HSP90, shapes the effect of most variants in a core signaling pathway.

  2. doi.org75

    Biomarker and Bioorthogonality Dual-Locked Chemiluminescent Probes for Cancer Urine Test

    Chemiluminescent tetrazine probes (CLTZs) stay dark until a bioorthogonal reaction with bicyclononyne (BCN) unlocks emission, enabling biomarker and bioorthogonality dual-locked cancer urine testing. Pairing an H2O2 and BCN dual-locked probe (HBCP) with a cancer-activatable urinary reporter (CBUR) gave in vivo tumor imaging with a signal-to-background ratio of 438 and detected lung metastasis in urinary assays with up to 23.9-fold signal enhancement over healthy mice. The work adds a molecular design route to noninvasive chemiluminescent diagnostics.

    Why it matters: A dual-locked chemiluminescent probe pair enables noninvasive urinary detection of cancer and lung metastasis with high contrast.

Oct 10Sat
  1. biorxiv.org58

    NECTIN4 defines a subtype-dependent tumor state coupling enfortumab vedotin targetability to antitumor immunity in bladder cancer

    NECTIN4, the target of enfortumab vedotin (EV), acts as a subtype-dependent determinant of tumor state and antitumor immunity in bladder cancer. Integrating clinical multi-omics, spatial and single-cell immune profiling, and experimental models, the work shows NECTIN4-high basal/squamous muscle-invasive tumors had favorable survival, higher checkpoint inhibitor response rates, and a CD8+ T cell-inflamed microenvironment, with no comparable associations in luminal papillary tumors; NECTIN4-low models were preferentially sensitive to HDAC inhibition.

  2. biorxiv.org40

    Proteomic Characterization of Prostate Cancer Bone Metastasis Subtypes Defines Progressive Remodeling States of the Bone-Tumor Microenvironment

    Proteomic profiling of lumbar vertebral specimens from 32 cadaveric prostate cancer bone metastases and 3 age-matched controls identified three clusters corresponding to benign, mixed, and osteosclerotic lesion states, each with distinct immune-, tumor-, and osteogenic-associated protein signatures. Tumor infiltration was accompanied by marrow fibrosis and increased collagen III deposition, and the protein markers reproduced similar groupings at RNA level in independent metastatic datasets, segregating bone from soft tissue metastases. The work defines molecularly distinct tumor-driven remodeling states that extend beyond histological classification and may guide biomarker and stratification efforts.

Oct 9Fri
  1. biorxiv.org50

    Fine-tuning genomic models on rare splicing events identifies a novel biomarker of TDP-43 pathology

    Fine-tuned OpenSpliceAI, a specialized splice site prediction model, outperformed a splicing head on AlphaGenome's frozen backbone for detecting TDP-43 cryptic exons, though fine-tuning all AlphaGenome weights enabled generalization to held-out data. Genome-wide application of fine-tuned OpenSpliceAI identified new cryptic splicing events in CLDN11 and ARHGAP23, validated in FTLD-TDP brain tissue. The CLDN11 cryptic exon is predicted to generate a neoepitope that could serve as an oligodendrocyte-specific biomarker of TDP-43 pathology.

  2. biorxiv.org65

    The Red Blood Cell Surface Defines a Distinct Tumor DNA Compartment for Liquid Biopsy

    Red blood cells tether and retain tumor-derived DNA on their surface, forming a distinct circulating pool of RBC-bound tumor DNA (rtDNA), with desialylation increasing capture in a Toll-like receptor 9-dependent manner. In mice bearing lung cancer xenografts, rtDNA was detected in all animals and tracked tumor burden while plasma tumor DNA was undetectable; in patients with lung cancer, most detected mutant tumor DNA was RBC-associated and concordant with matched tumor tissue. The findings challenge the plasma-centric liquid biopsy paradigm by identifying the RBC surface as a tunable reservoir of tumor DNA.

    Why it matters: It identifies red blood cells, not plasma, as the main circulating compartment of tumor DNA for liquid biopsy.

  3. biorxiv.org49

    Multi-Omic and Spatial Profiling Defines Outcome-Associated Tumor States in Head and Neck Adenoid Cystic Carcinoma

    Poor survival in head and neck adenoid cystic carcinoma is marked by loss of myoepithelial tumor cells and expansion of MYC/E2F-driven, actively dividing luminal states, defined by integrating bulk, single-cell, and spatial transcriptomes from 25 HNACC tumors. Both outcome groups share a myoepithelial-like origin, so aggressiveness reflects position along a shared developmental path. A four-gene classifier capturing this state predicted survival in an independent cohort, outperforming larger signatures and flagging aggressive subgroups in two others, supporting prospective risk stratification and proliferative-directed therapy.

  4. Science83

    The human gut microbiome primes fever after vaccination.

    Gut microbiome composition before vaccination predicts fever risk after SARS-CoV-2 mRNA vaccines. In 171 healthy adults, fever risk correlated with low-grade intestinal inflammation, higher abundance of flagellated Lachnospiraceae bacteria, and increased flagellin expression. Fecal microbiomes from fever-high donors triggered stronger inflammation in human intestinal organoids and drove flagellin-dependent vaccine reactions in gnotobiotic mice, and both flagellin phenotypes and murine reactions were modifiable by diet. This positions the gut microbiome as a driver of vaccine-induced fever and a potential target for reducing side effects.

    Why it matters: It identifies a modifiable microbiome predictor of vaccine fever, a common barrier to vaccine uptake.

  5. medrxiv.org53

    Non-invasive detection of mutagenic exposure to aristolochic acid using ultra-deep sequencing of blood and urine samples

    Duplex sequencing can detect the aristolochic acid mutational signature SBS22a in blood and urine, offering a non-invasive readout of carcinogen exposure before tumors form. In 12 urothelial carcinoma patients, the signature appeared in blood and urine from those with AA-positive tumors and was absent in AA-negative tumors. Single-cell WGS localized the signal to adaptive lymphoid cells, a long-lived systemic reservoir of mutational history.

Oct 8Thu
  1. Sci Adv65

    SLC39-driven zinc influx orchestrates pleiotropic tumor-immune system cross-talk to establish immune suppression in colorectal cancer.

    A zinc-CDX2-CD24-SIGLEC10 axis drives immune suppression in colorectal cancer, according to multi-omics analysis of 258 patients integrated with single-cell transcriptomics, spatial profiling and functional assays. SLC39-mediated zinc influx induced tumor cell CD24 expression, which reduced macrophage-mediated engulfment; CD24 blockade restored phagocytosis. A seven-gene signature predicted immunotherapy responses across five colorectal cancer cohorts.

Oct 7Wed
  1. nature.com81

    tRNA dosage regulates lineage dependency and resistance in prostate cancer

    A single tRNA species, tRNA1Arg(UCU), is downregulated during prostate cancer lineage plasticity and acts as a key regulator of lineage conversion and therapy resistance. In LNCaP models of the adenocarcinoma-to-lineage-plastic transition, tRNAArg(UCU) was the only significantly downregulated isoacceptor among 49 (DESeq2 log2FC = -0.338, FDR = 2.42 x 10-25). Restoring it sensitizes tumours to AR pathway inhibitors, its dosage controls lineage dependency through translational regulation of SMARCC2, and its loss marks NE prostate cancer and reduced overall survival.

    Why it matters: Links a specific tRNA to lineage plasticity and ARPI resistance in prostate cancer, with a druggable restoration effect.

  2. biorxiv.org45

    Dynamic Schlafen 11 (SLFN11) expression revealed by single-cell RNA sequencing of clonal human cancer cells

    SLFN11, a determinant of sensitivity to DNA-damaging therapies, is heterogeneously expressed among individual cells. Immunofluorescence microscopy and single-cell RNA sequencing across eight human cancer cell lines showed cell-to-cell heterogeneity at protein and RNA levels, with SLFN11 coexpressed with a stress-response state and genome maintenance programs and inversely correlated with protein translation pathways. Public single-cell RNA-sequencing datasets of human SCLC tumors confirmed the heterogeneous distribution, indicating dynamic single-cell regulation and a potential reservoir of intrinsic chemotherapy resistance.

  3. JAMA70

    Amyloid PET Quantitation and Centiloid Thresholds in the Diagnosis of Alzheimer Disease: An Individual Participant Data Meta-Analysis.

    An individual participant data meta-analysis of 49 227 amyloid PET scans from 53 studies across 15 countries establishes data-driven Centiloid cutoffs for amyloid positivity. Gaussian mixture modeling set a single positivity cutoff of 18 Centiloids, while correspondence with visual reads gave 27 Centiloids (Cohen κ, 0.86); scans between 11 and 26 Centiloids fall in a lower certainty range. These thresholds replace variable cutoffs with standardized bounds for clinical and trial interpretation of amyloid PET.

    Why it matters: It fixes standardized Centiloid positivity thresholds from 49 227 scans, directly affecting eligibility decisions for amyloid-targeting therapies.

Oct 6Tue
  1. biorxiv.org54

    RNA and protein are not interchangeable in single-cell spatial multi-omics

    Paired Xenium profiling of 21 matched RNA and protein targets across roughly 1.8 million cells from lung adenocarcinoma and metastatic castration-resistant prostate cancer shows the two modalities are not interchangeable. Lineage markers were concordant, but PD-1, PD-L1 and LAG-3 showed little agreement, and spatial organization was more discordant than overall abundance. The work sets rules for when spatial transcriptomics can proxy for protein and when orthogonal validation is needed.

  2. nature.com65

    Decoding systemic vascular health and hypertensive disorders in pregnancy through retinal imaging and Visionary AI

    Hypertensive disorders of pregnancy affect 2–15% of pregnancies and are usually diagnosed after 20 weeks of gestation, once hypertension, proteinuria or organ dysfunction appear, even though low-dose aspirin started before 16 weeks can reduce risk of preterm delivery with preeclampsia by up to 62%. The paper develops retinal imaging with AI to detect the systemic and placental vascular changes that precede symptoms, building on evidence that women with preeclampsia show retinal arteriolar narrowing, increased tortuosity and reduced capillary density before diagnosis.

    Why it matters: It tests a noninvasive retinal imaging route to early preeclampsia risk identification, which current late diagnostics fail to provide.

  3. biorxiv.org58

    Genetic dissection of DNA damage response pathways reveals divergent modulation of PD-1 blockade response in colorectal cancer

    A systematic in vivo screen of altered DNA damage response genes in a genome-edited murine model of MSS colorectal cancer shows that DDR defects have pathway-specific effects on PD-1 blockade response. Loss of Brca1, Brca2, Atm and Fanca enhanced anti-PD-1 response, while Atr and Msh6 deficiency predicted poor benefit, and BRCA1 alterations tracked with improved survival in patients from the MSK-IMPACT cohort. Pre-treatment with pharmacologic ATM inhibition enhanced the antitumor activity of PD-1 blockade in MSS colorectal cancer.

  4. Sci Adv59

    Speech clocks decode dementia phenotypes, social exposome, and biological aging.

    A speech clock built from acoustic and linguistic features of 2928 individuals across five Latin American countries estimates chronological age and yields speech age gaps that separate healthy controls from patient groups, ordered HC < AD < nldFTD < ldFTD. The gaps tracked p-Tau217 in AD, social exposome in controls and AD, brain clocks in the FTD groups, and epigenetic age across several clocks. The work positions speech as a scalable, low-cost biomarker candidate for underrepresented settings.

    Why it matters: Speech-based age gaps distinguished four dementia phenotypes and aligned with molecular, brain and social aging markers.

  5. medrxiv.org48

    Resection of highly functionally connected glioma regions predicts long-term cognitive preservation

    Resecting more glioma regions with high functional connectivity (HFC) on preoperative MEG predicted better long-term cognitive outcome rather than worse. In a preregistered analysis of 54 adults with diffuse glioma, resected HFC voxels were associated with less cognitive decline at ~1 year (48% declined; OR 0.85, P = .02) and showed no association with neurological decline at short-term (48% declined; OR 0.98) or long-term follow-up (27% declined; OR 0.99). The finding runs counter to the short-term risk attributed to HFC areas and supports non-invasive MEG connectivity mapping to guide the onco-functional balance in glioma surgery.

Oct 3Sat
Oct 2Fri
  1. biorxiv.org45

    Genetic risk and inflammatory signaling converge on cell type-specific regulatory programs in type 1 diabetes

    A subset of type 1 diabetes-associated variants may drive beta-cell dysfunction by disrupting transcription factor binding at cell type-specific candidate cis-regulatory elements. The authors integrated epigenomic and single-cell multiomic data from human pancreatic islets with T1D GWAS variants, and used the deep learning model ChromBPNet plus TF footprinting to nominate several disease-associated SNPs predicted to alter chromatin accessibility at candidate TF binding sites. The work links noncoding variants to cell type-specific enhancer activity and provides candidates for future mechanistic studies.

Oct 1Thu
  1. Cell46

    Microbiome signatures linked to cancer and treatment adverse events in a real-world cohort.

    A real-world mixed-cancer cohort of 1,364 cancer patients and 287 healthy controls at Mayo Clinic yielded 341 cancer-associated microbial species across five cancer classes after accounting for non-specific associations with comorbidities and clinical variables. Early-onset breast cancer showed lower fecal bile acids and C. scindens, early-onset colorectal cancer showed elevated lactate and Veillonella parvula, and Anaerostipes hadrus encoding dihydropyrimidine dehydrogenase was protective against 5-fluorouracil-induced diarrhea. The cohort provides a foundation for discovering cancer-specific microbiome signatures and predictive biomarkers.

  2. biorxiv.org50

    Cell-of-origin shapes tumor subtype in BRCA1-associated triple-negative breast cancer

    BRCA1-associated triple-negative breast cancer can originate in basal-myoepithelial cells as well as luminal progenitors, and the cell of origin determines the tumor subtype. Single-cell RNA sequencing of 67,001 cells from Wap-Cre Brca1/p53 mice showed that aberrant basal-myoepithelial differentiation produces the mesenchymal subtype, while aberrant luminal differentiation produces the basal-like subtype, with both occurring at comparable frequency in BRCA1 carriers. The findings argue for including both cell types in targeted prevention and adopting TNBC subtyping for patient stratification.

  3. nature.com44

    Population-scale immune multiome atlas reveals regulatory disease mechanisms

    The FinnGen project generated a population-scale single-nucleus immune multiome atlas, producing single-nucleus caQTL, eQTL, and peak-gene link summary statistics to connect regulatory variation to disease mechanisms. These resources, combined with GWAS summary statistics, are publicly available for browsing through the CASCADE framework. The atlas links common disease-associated variation to regulatory DNA across immune cell types.

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