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

• Inference of SARS-CoV-2 exposure biomarkers using large-scale T-cell repertoire profiling.

  PMID 41680899 · PMC12903587 · Genome medicine · 2026 · 7 claims · 6 setups

  Full-text index only

  A novel batch-effect correction method (log-normal gene usage modeling, Z-score normalization, and roulette-wheel resampling) allows combining AIRR-seq data from different batches and protocols.

  blood peripheral batch-corrected airr-seq airr-seq hla tcrβ

• A blood-based DNA damage signature in patients with Parkinson's disease is associated with disease progression.

  PMID 40913219 · PMC12443628 · Nature aging · 2025 · 8 claims · 2 setups

  Has reproduction · 69

  A blood-based DNA damage signature is present in PD patients and is associated with disease progression.

  blood gwas bulk genetic

• A four-gene signature from blood to exclude bacterial etiology of lower respiratory tract infection in adults.

  PMID 41285807 · PMC12644739 · Nature communications · 2025 · 8 claims · 8 setups

  Has reproduction · 94

  A 4-gene signature (ITGB4, ITGA7, IFI27, FAM20A) derived from whole blood RNA-seq discriminates any bacterial from nonbacterial ARI with cross-validated AUC = 0.90

  hospitalized adults pediatric blood bulk rna-seq microarray

• Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy.

  PMID 38352867 · PMC10861739 · Frontiers in immunology · 2024 · 6 claims · 3 setups

  Has reproduction · 73

  A targeted panel of 176 transcripts plus 8 housekeeping genes was identified for monitoring immunological changes during pregnancy

  blood bulk microarray bloodgen3

• Gene signature discovery and systematic validation across diverse clinical cohorts for TB prognosis and response to treatment.

  PMID 37471455 · PMC10393163 · PLoS computational biology · 2023 · 8 claims · 7 setups

  Has reproduction · 100

  A network-based meta-analysis of 27 discovery cohorts identified a common 45-gene signature specific to active TB disease across studies.

  blood aggregated 45-gene independent bulk network-based gene

• VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

  PMID 17204151 · PMC1781940 · BMC musculoskeletal disorders · 2007 · 7 claims · 5 setups

  Full-text index only

  The T allele of VEGF +936 (rs3025039) is significantly less frequent in PsA cases than in controls, suggesting a protective effect against PsA.

  blood same subject psa snp allele hardy-weinberg

• The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile.

  PMID 19105833 · PMC2626571 · BMC cardiovascular disorders · 2008 · 7 claims · 4 setups

  Full-text index only

  T-allele carriers of the CYP2J2 G-50T polymorphism had significantly more myocardial infarctions than G/G carriers in univariate analysis (21.6% vs 13.7%, p=0.026)

  whole-blood patients pooled genotyping clinical multivariate

• Newborn sex-specific transcriptome signatures and gestational exposure to fine particles: findings from the ENVIRONAGE birth cohort.

  PMID 28583124 · PMC5458481 · Environmental health : a global access science source · 2017 · 8 claims · 6 setups

  Has reproduction · 71

  Gestational PM2.5 exposure is associated with sex-specific transcriptome signatures in cord blood, with a significant sex-by-exposure interaction for many genes.

  cord maternal pm2.5-associated blood whole-genome spatial-temporal overrepresentation

• Identification of a pediatric acute hypoxemic respiratory failure signature in peripheral blood leukocytes at 24 hours post-ICU admission with machine learning.

  PMID 37009294 · PMC10063855 · Frontiers in pediatrics · 2023 · 7 claims · 5 setups

  Full-text index only

  A machine learning stability selection approach (bootstrapped logistic regression, 100 simulations) can identify genes associated with PaO2/FiO2 < 200 vs ≥200 when standard differential expression with FDR correction shows no overlap between cohorts.

  pediatric combined top-ranked whole-blood machine pathway

• Blood RNA signature RISK4LEP predicts leprosy years before clinical onset.

  PMID 34090257 · PMC8182229 · EBioMedicine · 2021 · 8 claims · 6 setups

  Has reproduction · 53

  1,613 genes were differentially expressed in leprosy progressors before diagnosis (t=1) compared to household contacts.

  blood rna-seq rt-qpcr differentially rna-seq rt-qpcr random

• A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.

  PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups

  Full-text index only

  A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy

  african index cyp2c9 study pyrosequencing pcr custom

• The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

  PMID 19784393 · PMC2751802 · Molecular vision · 2009 · 6 claims · 4 setups

  Full-text index only

  A novel MYOC missense mutation, Y371D (1111t→g), causes an aggressive, autosomal dominant form of JOAG in this family.

  genomic caucasian patients blood direct mutation clinical

• NGSTroubleFinder: a tool for detection and quantification of contamination and kinship across human NGS data.

  PMID 41608734 · PMC12838523 · NAR genomics and bioinformatics · 2026 · 8 claims · 8 setups

  Full-text index only

  NGSTroubleFinder detects cross-sample contamination, sample swaps, kinship, and sex mismatches from BAM/CRAM files without requiring additional variant-calling steps

  genomes 1000gp internal whole-genome whole-transcriptome wgs

• Cell Specific eQTL Analysis without Sorting Cells.

  PMID 25955312 · PMC4425538 · PLoS genetics · 2015 · 7 claims · 4 setups

  Has reproduction · 90

  A genotype x predicted-cell-count interaction (GxE) meta-analysis across whole blood datasets can detect neutrophil-specific cis-eQTLs without cell sorting

  blood neutrophils cis-eqtl cell-count rna-seq

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

  Full-text index only

  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation

• Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.

  PMID 18366677 · PMC2324081 · BMC medical genetics · 2008 · 8 claims · 7 setups

  Full-text index only

  Distinct sets of dysregulated genes are found in peripheral blood during the relapse phase versus the remission phase of RRMS

  peripheral blood pooled trio gene quantitative promoter

• Deep-learning prediction of gene expression from personal genomes.

  PMID 41495833 · PMC12869966 · Genome biology · 2026 · 8 claims · 8 setups

  Full-text index only

  Fine-tuning Enformer on paired personal WGS and RNA-seq data (Variformer) corrects Enformer's failure to predict inter-individual gene expression differences across held-out people.

  gtex rosmap same monocyte paired mutagenesis chromhmm

• A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.

  PMID 36694043 · PMC9873918 · Communications biology · 2023 · 8 claims · 8 setups

  Has reproduction · 83

  Disease-specific temporal (dynamic) gene expression and splicing signatures, distinct from fixed timepoint differential expression, can be derived from DSS and adoptive transfer colitis models to capture acute-chronic disease dynamics

  colon blood distal ibd bulk qpcr histopathology

• 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