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).

• DNA methylation biomarkers-based pan-cancer classifier: predictive modeling for cancer classification.

  PMID 42152108 · PMC13185202 · Genome medicine · 2026 · 8 claims · 5 setups

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  Relatively simple ML models (logistic regression) outperform complex algorithms such as deep neural networks for methylation-based cancer classification

  validation cns healthy genes methylation copy-number gene-set

• PolyGenie: a reproducible Nextflow pipeline for phenome-wide association studies using polygenic risk scores.

  PMID 42272542 · PMC13247587 · NAR genomics and bioinformatics · 2026 · 7 claims · 6 setups

  Full-text index only

  PolyGenie is an open-source Nextflow pipeline that takes precomputed PRS and phenotype data as input and performs scalable PheWAS analysis across binary and continuous outcomes

  gcat phewas genome-wide genotype

• A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.

  PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups

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  A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD

  cases patients postmortem whole-genome cox linear

• 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

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  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

• Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology.

  PMID 18676414 · PMC2639365 · International journal of epidemiology · 2009 · 7 claims · 2 setups

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  Conventional power calculations for case-control studies disregard analytic complexity (e.g. clinical assessment errors, unmeasured aetiological determinants) and can seriously underestimate true sample size requirements

  simulated simulation-based simulated

• A single cell characterisation of human embryogenesis identifies pluripotency transitions and putative anterior hypoblast centre.

  PMID 34140473 · PMC8211662 · Nature communications · 2021 · 8 claims · 5 setups

  Has reproduction · 90

  The human post-implantation epiblast transitions from a naïve to a primed pluripotent state, with naïve markers (KLF4, KLF17, PRDM14, etc.) downregulated and primed markers (FGF2, DNMT3B, SOX11, etc.) upregulated between pre- and post-implantation stages

  embryo embryos single-cell logistic immunofluorescence

• Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels.

  PMID 19846279 · PMC2784140 · Schizophrenia research · 2009 · 8 claims · 5 setups

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  ACACA SNP rs2229416 was previously found significantly associated with hypertriglyceridemia in patients on H1-blocking antipsychotics

  psychiatric same antipsychotic-treated snp logistic serum

• Computationally scalable regression modeling for ultrahigh-dimensional omics data with ParProx.

  PMID 34254998 · PMC8575036 · Briefings in bioinformatics · 2021 · 6 claims · 4 setups

  Has reproduction · 79

  ParProx implements latent group lasso penalized regression (overlapping and non-overlapping groups) for survival (Cox) and classification (logistic) analysis of omics data.

  tcga breast liver simulated cox logistic simulation

• Detecting aberrant DNA methylation in Illumina DNA methylation arrays: a toolbox and recommendations for its use.

  PMID 37218167 · PMC10208159 · Epigenetics · 2023 · 8 claims · 8 setups

  Has reproduction · 73

  Developed OutlierMeth, an R package that computes probe-specific thresholds and flags DNA methylation outliers from array data

  normal blood tcga gse40279 illumina logistic unsupervised

• Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.

  PMID 20044523 · PMC2923092 · Stroke · 2010 · 8 claims · 6 setups

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  SNP rs2208454 in intron 3 of MACROD2 (near FLRT3, chr20p12) is associated with lower risk of covert MRI-infarcts (OR=0.76, p=4.64x10-7)

  stroke-free elderly african-american cardiovascular genome-wide direct expression

• Bioinformatics methods for learning radiation-induced lung inflammation from heterogeneous retrospective and prospective data.

  PMID 19704920 · PMC2688763 · Journal of biomedicine & biotechnology · 2009 · 8 claims · 3 setups

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  Kernel-based methods (e.g., SVM) can capture nonlinear dose-volume interactions relevant to predicting radiation pneumonitis

  nsclc inoperable blood retrospective prospective 3-way

• The EH1 motif in metazoan transcription factors.

  PMID 16309560 · PMC1310626 · BMC genomics · 2005 · 8 claims · 5 setups

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  There is a statistically significant association between EH1hox motif HMM score and transcription factor function across human, Drosophila and C. elegans proteomes.

  homeobox-containing forkhead-containing complete combined meme hmm logistic

• Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

  PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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  SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

  blood family unrelated subjects snp family-based linkage

• Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

  PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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  Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

  peripheral wecare atm mutation case-control variant

• Genetic and functional association of FAM5C with myocardial infarction.

  PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample

  genecard cathgen donor aortic genome-wide case-control expression

• Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.

  PMID 19844207 · PMC2797562 · Molecular psychiatry · 2010 · 8 claims · 7 setups

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  rs1344706 in ZNF804A is associated with schizophrenia in the Irish ICCSS sample, replicating the original Cardiff finding

  irish iccss postmortem genomic snp haplotype logistic

• A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

  PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups

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  A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test

  unrelated simulated selected genes genome-wide statistical logistic

• Tractor workflow: a scalable Nextflow framework for local ancestry-aware genome-wide association studies.

  PMID 41838407 · PMC13197121 · Bioinformatics (Oxford, England) · 2026 · 7 claims · 6 setups

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  Developed a scalable Nextflow workflow that automates phasing, local ancestry inference (LAI), and Tractor GWAS into a reproducible end-to-end pipeline

  biobank phased two-way simulated haplotype local gwas

• Scalable Prediction of Acute Myeloid Leukemia Using High-Dimensional Machine Learning and Blood Transcriptomics.

  PMID 31918046 · PMC6992905 · iScience · 2020 · 8 claims · 8 setups

  Has reproduction · 96

  Assembled the largest reference blood gene expression profiling (GEP) dataset for AML to date: 12,029 samples from 105 studies across three platforms.

  peripheral datasets hg-u133 disjoint bulk machine deep

• Pathway signatures derived from on-treatment tumor specimens predict response to anti-PD1 blockade in metastatic melanoma.

  PMID 34654806 · PMC8519947 · Nature communications · 2021 · 6 claims · 8 setups

  Has reproduction · 100

  A pathway-based super signature from on-treatment samples (PASS-ON) predicts anti-PD1 response with high accuracy (validation AUC 0.85-0.89, combined AUC 0.88) and outperforms existing signatures across all four datasets.

  metastatic pathway bulk gene elastic-net