Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

  PMID 41685349 · PMC12891912 · NAR genomics and bioinformatics · 2026 · 8 claims · 6 setups

  Has reproduction

  A streamlined RNA-guided workflow combining OUTRIDER, FRASER, Borzoi, and MOLGENIS VIP was developed to identify gene-disease associations by linking outlier gene expression/splicing to prioritized patient-level variants

  udn blood clinvar wgs wgs bulk rna-seq

• AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraints.

  PMID 42083807 · PMC13198384 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 6 setups

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  AXOLOTL is a novel ensemble outlier detection method that incorporates coexpression constraints to detect aberrant gene expression events in RNA expression matrices.

  gtex skin-derived skeletal ly111 bulk shap

• Integrative single-cell analysis uncovers distinct tumour microenvironment ecotypes and immune evasion across skin cancers.

  PMID 41636115 · PMC12869349 · Clinical and translational medicine · 2026 · 7 claims · 8 setups

  Full-text index only

  A malignant NARS2+NDUFC2+ melanoma cell subpopulation with reduced MHC-I expression is enriched in advanced-stage tumours and associated with worse survival and immunotherapy response.

  skin prognosis melanoma macrophage single-cell bulk immunofluorescence

• Multi-modal skin atlas identifies a multicellular immune-stromal community associated with disrupted cornification and specific T cell expansion in atopic dermatitis.

  PMID 41741455 · PMC13057205 · Nature communications · 2026 · 8 claims · 8 setups

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  Generated a multi-modal single-cell atlas of 280,518 cells from 27 samples/17 adults (healthy, AD non-lesional/lesional, scleroderma), integrated with 430,186 cells from four prior studies into a 710,704-cell human skin atlas with 86 annotated granular cell subsets.

  skin healthy keratinocytes re-annotated droplet-based scrna-seq bulk

• A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

  PMID 30833571 · PMC6399342 · Nature communications · 2019 · 6 claims · 8 setups

  Has reproduction · 90

  A GWAS of 12,312 CTS cases and 389,344 controls in UK Biobank identifies 16 novel genome-wide significant susceptibility loci for CTS

  biobank surgically gwas transformed genome-wide sequencing gene-based

• Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

  PMID 41984969 · PMC13082330 · Science advances · 2026 · 8 claims · 6 setups

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  STRIPE enables deep, haplotype-resolved sequencing of full-length transcripts for customized disease-specific gene panels to detect transcript aberrations and sequence variants

  skin gtex fibroblast cohort targeted untargeted short-read

• Machine learning-based identification of an immunotherapy-related signature to enhance outcomes and immunotherapy responses in melanoma.

  PMID 39355255 · PMC11442245 · Frontiers in immunology · 2024 · 8 claims · 8 setups

  Has reproduction · 69

  66 consensus immunotherapy prognostic genes (CITPGs) were identified from the intersection of WGCNA modules, immunotherapy responder-vs-non-responder DEGs, and tumor-vs-normal DEGs

  melanoma tcga-skcm prjeb23709 microarray wgcna differential consensus

• Recurring mutations found by sequencing an acute myeloid leukemia genome.

  PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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  Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.

  aml-m1 tumor bone additional whole-genome snp gene-expression

• Machine learning developed an intratumor heterogeneity signature for predicting clinical outcome and immunotherapy benefit in bladder cancer.

  PMID 39100839 · PMC11291408 · Translational andrology and urology · 2024 · 8 claims · 8 setups

  Has reproduction · 40

  An integrative machine learning procedure (10 methods, 101 algorithm combinations) identified an Enet (alpha=0.2)-based intratumor heterogeneity-related signature (IRS) with the highest average C-index (0.69) across TCGA and GEO cohorts

  bladder skin bulk integrative immune

• DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

  PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups

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  Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.

  aml tumor novo additional genome snp comparative

• PD-1 and TIGIT coexpression identifies a circulating CD8 T cell subset predictive of response to anti-PD-1 therapy.

  PMID 33188038 · PMC7668369 · Journal for immunotherapy of cancer · 2020 · 7 claims · 6 setups

  Has reproduction · 75

  The frequency of circulating PD-1+TIGIT+ (DPOS) CD8+ T cells after 1 month of anti-PD-1 therapy is associated with clinical response and overall survival

  pbmcs sorted expanded cancer multiparameter receptor targeted

• Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

  PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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  SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

  blood family unrelated subjects snp family-based linkage

• Distinct phenotypes and repertoires of bronchoalveolar and airway mucosal T cells in health and allergic asthma.

  PMID 41519381 · PMC12983186 · Mucosal immunology · 2026 · 8 claims · 6 setups

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  BAL and endobronchial brush sampling capture phenotypically and clonally distinct T cell populations

  sorted paired bal subjects single-cell fluorescence-activated methacholine

• A causal glycerophospholipid-IL-18R1-CD9 axis connects lipid metabolism and T-cell activation in atopic dermatitis.

  PMID 42061907 · PMC13132603 · Briefings in bioinformatics · 2026 · 7 claims · 8 setups

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  1-palmitoyl-2-arachidonoyl-GPC (PA-GPC) is a protective metabolite against AD that acts primarily by downregulating IL-18R1

  gwas skin training keratinocyte linkage two-sample bayesian

• Defining human diabetic nephropathy on the molecular level: integration of transcriptomic profiles with biological knowledge.

  PMID 18704688 · PMC2597685 · Reviews in endocrine & metabolic disorders · 2008 · 8 claims · 8 setups

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  Genetic predisposition determines susceptibility and rate of progression to ESRD in diabetic patients, in addition to environmental factors

  kidney proximal pbmcs macrophages gene qrt-pcr immunohistochemistry

• Dextrorotatory kynurenine suppresses acute rejection through inhibiting M1 macrophage-mediated inflammation.

  PMID 41644740 · PMC12988155 · EMBO molecular medicine · 2026 · 8 claims · 7 setups

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  Elevated serum D-Kyn levels correlate with stable graft function, while lower D-Kyn is associated with acute rejection

  serum kidney allogeneic ion scrna-seq pseudotime

• Putting science over supposition in the arena of personalized genomics.

  PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups

  Full-text index only

  There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.

  adults same tested baseline multiplex telephone-based

• Pan-cancer evaluation of regulated cell death to predict overall survival and immune checkpoint inhibitor response.

  PMID 38538696 · PMC10973470 · NPJ precision oncology · 2024 · 8 claims · 8 setups

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  RCD score, defined as the sum of ssGSEA scores of 18 RCD signatures, quantifies overall RCD signaling in a sample

  tcga gtex scrna-seq cancer bulk scrna-seq transcriptomic