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).

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• Identification of diagnostic markers for tuberculosis by proteomic fingerprinting of serum.

  PMID 16980117 · PMC7159276 · Lancet (London, England) · 2006 · 8 claims · 5 setups

  Full-text index only

  An SVM classifier trained on serum proteomic profiles discriminated patients with active tuberculosis from controls with clinically overlapping conditions

  serum computational kda spin-column seldi-tof supervised peptide

• Machine learning algorithm predicts fibrosis-related blood diagnosis markers of intervertebral disc degeneration.

  PMID 37915003 · PMC10619283 · BMC medical genomics · 2023 · 7 claims · 7 setups

  Has reproduction · 68

  CEP120 and SPDL1 are fibrosis-related diagnostic genes for IDD, identified via a random forest model from 29 differentially expressed fibrosis-related genes

  blood gse150408 prediction pbmcs bulk machine roc

• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

  PMID 39039281 · PMC11319204 · Nature genetics · 2024 · 6 claims · 5 setups

  Has reproduction · 87

  A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.

  patients exome deep computer-assisted

• Genomic transcriptional profiling identifies a candidate blood biomarker signature for the diagnosis of septicemic melioidosis.

  PMID 19903332 · PMC3091321 · Genome biology · 2009 · 6 claims · 5 setups

  Full-text index only

  A candidate 37-transcript diagnostic signature distinguishes septicemic melioidosis from sepsis caused by other organisms with 100% accuracy in the training set and 78%/80% accuracy in two independent validation sets

  blood whole-genome unsupervised class

• Exploring the prognostic and diagnostic value of lactylation-related genes in sepsis.

  PMID 39367086 · PMC11452377 · Scientific reports · 2024 · 8 claims · 7 setups

  Has reproduction · 73

  Intersecting sepsis-associated differentially expressed genes with a curated list of 332 lactylation genes yields 55 sepsis-related lactylation genes.

  peripheral overlapping geo pbmcs bulk kegg protein-protein

• Urinary proteomic profiling for diagnostic bladder cancer biomarkers.

  PMID 19811072 · PMC3422861 · Expert review of proteomics · 2009 · 8 claims · 8 setups

  Full-text index only

  Single protein biomarkers (e.g., NMP-22, BTA) suffer from high false-positive rates and none have replaced cystoscopy or cytology for bladder cancer detection.

  urine page gel 2d-dige

• Novel mutation of the PRNP gene of a clinical CJD case.

  PMID 17129366 · PMC1693557 · BMC infectious diseases · 2006 · 7 claims · 5 setups

  Full-text index only

  A novel PRNP point mutation at codon 193 (ACC→ATC, T193I, C578T transition) was identified in a CJD patient, heterozygous for threonine/isoleucine

  cerebrospinal genomic western pcr electroencephalography

• Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

  PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups

  Full-text index only

  Expert clinical-radiological preselection significantly increases mutation detection rate in MED

  patients genomic single clinical pcr

• Integrated Analysis of Multiple Microarrays Based on Raw Data Identified Novel Gene Signatures in Recurrent Implantation Failure.

  PMID 35197930 · PMC8859149 · Frontiers in endocrinology · 2022 · 6 claims · 7 setups

  Has reproduction · 85

  Robust Rank Aggregation (RRA) can integrate DEG lists from multiple independent RIF microarray datasets to identify robust DEGs.

  endometrium integrated robust ppi microarray robust gene

• Identification of HNPCC by molecular analysis of colorectal and endometrial tumors.

  PMID 15528786 · PMC3839268 · Disease markers · 2004 · 8 claims · 5 setups

  Full-text index only

  The Bethesda criteria, with a few modifications, are appropriate to identify families eligible for MMR mutation genetic testing

  colorectal endometrial microsatellite immunohistochemistry germline

• Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

  PMID 15082894 · PMC2822302 · Journal of Korean medical science · 2004 · 8 claims · 4 setups

  Full-text index only

  Five unrelated Korean X-linked CGD patients each carry a distinct CYBB gene mutation: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC, and c.434T>C

  neutrophils genomic splice-site activated pcr-single sequencing

• Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

  PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups

  Full-text index only

  CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations

  korean family bronchial quantitative sweat cftr

• Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

  PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups

  Full-text index only

  A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).

  eyes blood-derived ebna xlrs optical genetic transfection

• Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

  PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups

  Full-text index only

  No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.

  genomic patients pcr sequencing genetic

• Discrimination of double primary lung cancer from intrapulmonary metastasis by p53 gene mutation.

  PMID 10188905 · PMC2362717 · British journal of cancer · 1999 · 7 claims · 3 setups

  Full-text index only

  p53 mutation patterns can be used as a clonal marker to discriminate double primary lung cancer from intrapulmonary metastasis in synchronous double lung tumours.

  paraffin-embedded pcr lung pcr-single-strand sequencing extraction

• Identification and verification of diagnostic biomarkers in recurrent pregnancy loss via machine learning algorithm and WGCNA.

  PMID 37691920 · PMC10485775 · Frontiers in immunology · 2023 · 8 claims · 8 setups

  Has reproduction · 55

  352 DEGs (198 up-regulated, 154 down-regulated) were identified between RPL and control endometrial samples

  endometrial degs hub decidua microarray wgcna machine

• Specific signature biomarkers highlight the potential mechanisms of circulating neutrophils in aneurysmal subarachnoid hemorrhage.

  PMID 36438795 · PMC9685413 · Frontiers in pharmacology · 2022 · 7 claims · 8 setups

  Has reproduction · 80

  Six genes (CST7, HSP90AB1, PADI4, PLBD1, RAB32, SLAMF6) are signature diagnostic biomarkers for aSAH identified by LASSO and SVM-RFE.

  peripheral overlapping asah drug-treatment microarray wgcna ppi

• Integrated drug resistance and leukemic stemness gene-expression scores predict outcomes in large cohort of over 3500 AML patients from 10 trials.

  PMID 39090192 · PMC11294346 · NPJ precision oncology · 2024 · 7 claims · 6 setups

  Has reproduction · 50

  A 5-gene ADE-Resistance Score (ADE-RS5), derived via LASSO regression from 67 pharmacologically relevant genes, predicts MRD positivity, EFS and OS in pediatric AML.

  pediatric combined lasso gene-expression-based integrated

• LRP1 as a potential diagnostic and immunomodulatory target in endometriosis: evidence from multi-omics and single-cell analyses.

  PMID 42064072 · PMC13124487 · Frontiers in immunology · 2026 · 7 claims · 8 setups

  Has reproduction · 49

  LRP1 is the top hub gene with the highest diagnostic performance for distinguishing ectopic from eutopic endometrium in EMS

  ectopic geo training gwas microarray wgcna machine