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

• Rare variant analyses provide insights into the genetic architecture of endometriosis.

  PMID 41736152 · PMC13001359 · Human genomics · 2026 · 7 claims · 8 setups

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  Gene-based burden testing of rare LoF and deleterious missense variants identifies SOGA1 as significantly associated with endometriosis after Bonferroni correction

  unrelated finngen biobank soga1 exome gene-based protein-protein

• 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

• Analysis of sequence conservation at nucleotide resolution.

  PMID 18166073 · PMC2230682 · PLoS computational biology · 2007 · 8 claims · 4 setups

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  SCONE (Sequence CONservation Evaluation) is a novel method that estimates evolutionary rate and a neutrality p-value for individual nucleotide positions in a multiple sequence alignment.

  encode population comparative snp functional

• GDSim: accurate simulation for single-cell transcriptomes based on the guided diffusion model.

  PMID 41978379 · PMC13076945 · Briefings in bioinformatics · 2026 · 8 claims · 4 setups

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  GDSim, a label-guided diffusion-based deep generative network, can simulate scRNA-seq data that closely reflects the true distribution of original data

  real simulated annotated scrna-seq subtype differential