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).

• 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

• 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

• Single-cell spatial analysis stratifies lung adenocarcinoma with rare actionable mutations and reveals immune-modulatory cellular crosstalk.

  PMID 42013848 · PMC13198233 · Cell reports. Medicine · 2026 · 8 claims · 8 setups

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  Consensus meta-program (MP) expression patterns stratify LUAD patients with rare and reference oncogenic mutations into ICI-MP-H and ICI-MP-L subgroups reflecting differential predicted ICI benefit

  luad matched tcga epithelial single-cell multiplex bulk

• saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval.

  PMID 41709279 · PMC13019952 · Genome biology · 2026 · 8 claims · 5 setups

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  Replacing the library-size offset with the log of the total gene count in NB-based bulk RNA-seq models (edgeR/DESeq2) lets the mean-model parameters be interpreted as transcript/exon usage, unlocking these tools for differential usage and aberrant splicing without DEXSeq-style subject-specific blocking covariates.

  simulated bulk cohort aberrant differential exon

• Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.

  PMID 41637188 · PMC12932927 · Cell reports · 2026 · 8 claims · 8 setups

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  Combined MPRA enhancer assays, RNA-seq (DE/ATU) analysis, and CRISPR-Cas9 engineering to dissect the function of 94 rare non-coding variants (RNVs) associated with blood traits

  k-562 chrf-288-11 hl-60 thp-1 massively bulk crispr-cas9