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).

• Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.

  PMID 34561431 · PMC8463674 · Nature communications · 2021 · 8 claims · 7 setups

  Has reproduction · 100

  revTWMR, a reverse transcriptome-wide Mendelian Randomization approach integrating GWAS and whole-blood trans-eQTL summary statistics, is proposed to estimate the causal effect of a phenotype on gene expression.

  blood ra-associated genome-wide revtwmr transcriptome-wide reverse functional

• Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma.

  PMID 42018614 · PMC13101850 · Science advances · 2026 · 8 claims · 8 setups

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  DNA methylation is a plausible causal driver of gene expression in the majority (73%) of tested eQTM pairs, more often than the reverse direction (28%)

  nasal genes snps types eqtm eqtl causal

• Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

  PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups

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  A Bayesian-inspired penalised maximum likelihood stochastic search method can simultaneously analyse all SNPs (up to 500K) from a GWA study in a few hours on a desktop workstation

  fregene-simulated 80k-snp 480k 192k simulated null whole-genome

• Genetic evidence supporting obesity as a risk factor for lung squamous cell carcinoma and the identification of MFAP1 as a shared genetic target.

  PMID 41820721 · PMC13096280 · Discover oncology · 2026 · 8 claims · 8 setups

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  BMI and LUSC show a significant positive genome-wide genetic correlation, robust to constrained-intercept sensitivity analysis and replicated by GNOVA.

  gwas gtex scrna-seq ldsc gnova ρ-hess

• Imputation-based analysis of association studies: candidate regions and quantitative traits.

  PMID 17676998 · PMC1934390 · PLoS genetics · 2007 · 8 claims · 2 setups

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  Imputation-based Bayesian regression increases power to detect association compared with standard single-SNP tests, even when the causal variant is directly typed

  study phenotyped genotype bayesian

• 6th annual meeting of the Complex Trait Consortium.

  PMID 17906895 · PMC2042027 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 8 claims · 7 setups

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  The NIEHS Perlegen/resequencing project has generated over 8.5 million SNPs from 15 inbred mouse strains but shows a high false-negative discovery rate, with an estimated 45 million SNPs actually present.

  inbred recombinant yeast gallstone genome affymetrix microarray

• Integrated multi-omics analysis combined with clinical validation reveals that HLA-DRB5 and ODAPH are causal risk genes for keratoconus.

  PMID 41803193 · PMC13179358 · Scientific reports · 2026 · 8 claims · 8 setups

  Has reproduction · 64

  2,884 differentially expressed genes (DEGs) were identified as the union of upregulated genes from two independent KC transcriptome datasets (GSE151631, GSE77938), enriched in cell adhesion, immune response, and TNF/IL-17 signaling pathways.

  corneal deg gwas eqtl bulk kegg summary-data

• Integrated weighted gene co-expression network analysis with an application to chronic fatigue syndrome.

  PMID 18986552 · PMC2625353 · BMC systems biology · 2008 · 8 claims · 6 setups

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  Integrated WGCNA (IWGCNA), which adds genetic marker-based causality testing to standard WGCNA, can identify a disease-related module and its causal drivers

  cfs most candidate second microarray snp weighted

• Targeted capture and massively parallel sequencing of 12 human exomes.

  PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups

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  Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence

  hapmap unrelated na18507 randomly targeted array-based molecular

• Smoking promotes colorectal cancer via the CKAP2L/AREG axis.

  PMID 41823522 · PMC13038336 · International journal of oncology · 2026 · 8 claims · 8 setups

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  Smoking is positively associated with CRC risk, confirmed by both cross-sectional (NHANES) and Mendelian randomization analyses

  participants european crc hct116 cross-sectional two-sample single-cell

• 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

• PowerBacGWAS: a computational pipeline to perform power calculations for bacterial genome-wide association studies.

  PMID 35338232 · PMC8956664 · Communications biology · 2022 · 8 claims · 8 setups

  Has reproduction · 85

  Two computational approaches (sub-sampling and phenotype-simulation) can be implemented to perform power calculations for bacterial GWAS using existing genome collections, packaged as the PowerBacGWAS pipeline

  enterococcus klebsiella mycobacterium faecium pan-genome burden variant

• Genetical genomics: spotlight on QTL hotspots.

  PMID 18949031 · PMC2563687 · PLoS genetics · 2008 · 8 claims · 4 setups

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  Distant eQTL hotspots are rare and difficult to reliably verify across published genetical genomics studies

  adipose saccharomyces genome-wide permutation gene

• Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.

  PMID 18212765 · PMC7116808 · Nature clinical practice. Endocrinology & metabolism · 2008 · 8 claims · 8 setups

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  Six high-density genome-wide association studies in over 19,000 individuals identified approximately ten T2D-susceptibility loci, including HHEX, IDE, SLC30A8, FTO, CDKAL1, CDKN2A/CDKN2B, and IGF2BP2.

  t2d icelandic population tcf7l2 genome-wide linkage candidate-gene

• Integrating human plasma proteomes with genome-wide association data implicates novel proteins and drug targets for rheumatoid arthritis.

  PMID 41540382 · PMC12892679 · Clinical proteomics · 2026 · 8 claims · 8 setups

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  PWAS integrating RA GWAS with ARIC and INTERVAL plasma pQTL data identified 35 genetically regulated proteins (42 associations) significantly associated with RA risk.

  plasma shared gtex blood proteome-wide two-sample bayesian

• Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.

  PMID 41689074 · PMC13005531 · Genome medicine · 2026 · 8 claims · 8 setups

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  5,507 lead signals (P<5x10^-9) were identified for seven LFQBs across ancestries, including 210 novel loci

  hope biobank combined cross-ancestry gwas cross-ancestry functional-informed

• 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 · 8 claims · 8 setups

  Has reproduction · 49

  LRP1 is a hub gene with the highest diagnostic performance among 30 candidate hub genes identified by machine learning

  ectopic geo gse5108 training microarray wgcna machine

• Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.

  PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups

  Has reproduction

  GWAS identified 102 genome-wide significant loci (including 27 novel) associated with aortic distensibility and area traits

  same biobank arterial cardiac genome-wide multi-trait snp-based

• Single-immunocyte transcriptomics reveal the role of natural killer cell-dependent exogenous antigen presentation in ankylosing spondylitis severity.

  PMID 41593306 · PMC12868835 · Experimental & molecular medicine · 2026 · 8 claims · 8 setups

  Full-text index only

  Innate antibacterial defense functions are generally enhanced in most cell types at AS onset and are negatively associated with AS severity

  pbmcs gwas pbmc-derived cd4+ single-cell bulk mendelian

• Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.

  PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 8 claims · 8 setups

  Has reproduction · 79

  Meta-analysis confirmed a positive association between DED and DEP occurrence

  patients taiwan biobank twb meta-analysis genome-wide score