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).
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Translation of genomics research at the bedside: the promise and the challenge.
PMID 18804420 · PMC2602964 · Clinical immunology (Orlando, Fla.) · 2008 · 7 claims · 4 setups
Kodama et al. used gene expression microarrays to profile molecular perturbations in lymph nodes, spleen, and peripheral blood of NOD mice during development of type 1 diabetes
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Current and future directions in genomics of amyotrophic lateral sclerosis.
PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups
Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations
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Utah's Family High Risk Program: bridging the gap between genomics and public health.
PMID 15888235 · PMC1327718 · Preventing chronic disease · 2005 · 8 claims · 6 setups
Collection of family history through the Family High Risk Program (FHRP) is a cost-effective method for identifying and intervening with high-risk populations for chronic disease
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DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
PMID 15608249 · PMC539965 · Nucleic acids research · 2005 · 5 claims · 8 setups
Comparative human-mouse genome analysis identifies conserved sequence tags (CSTs, >=70% identity over >=100bp) that frequently correspond to non-coding elements with putative regulatory or structural roles
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POCUS: mining genomic sequence annotation to predict disease genes.
PMID 14611661 · PMC329128 · Genome biology · 2003 · 8 claims · 6 setups
Genes predisposing to the same disease tend to share functional annotation IDs (GO/InterPro) more than expected by chance
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Has reproduction · 100
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 · 8 setups
A network-based meta-analysis across studies identifies a common 45-gene signature specific to active TB disease that accounts for cohort/population heterogeneity
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Identification of disease causing loci using an array-based genotyping approach on pooled DNA.
PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups
Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping
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Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.
PMID 15888216 · PMC1327699 · Preventing chronic disease · 2005 · 8 claims · 6 setups
Family history is the most consistent risk factor for almost all human diseases across the lifespan.
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Analysis of protein sequence and interaction data for candidate disease gene prediction.
PMID 17020920 · PMC1636487 · Nucleic acids research · 2006 · 8 claims · 7 setups
Combining CPS and CMP using known disease genes as input achieves sensitivity 0.52 and specificity 0.97, reducing candidate lists 13-fold
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Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.
PMID 16757574 · PMC1475747 · Nucleic acids research · 2006 · 6 claims · 8 setups
Applying seven independent computational disease-gene prioritization methods in concert to 9556 positional candidate genes identifies a prioritized set of likely T2D and obesity candidate genes
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Gene-disease relationship discovery based on model-driven data integration and database view definition.
PMID 19042916 · PMC2639000 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 4 setups
Explicit gene–disease relationships can be formulated as candidate gene definitions (e.g., co-localization, dysregulation, functional similarity) that may include intermediary orthologous or interacting genes
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The role of positive selection in determining the molecular cause of species differences in disease.
PMID 18837980 · PMC2576240 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
Genes predicted to be under positive selection during human evolution are implicated in diseases (epithelial cancers, schizophrenia, autoimmune diseases, Alzheimer's disease) that differ in prevalence and symptomatology between humans and other mammals
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Evolutionary algorithms for the selection of single nucleotide polymorphisms.
PMID 12875658 · PMC183839 · BMC bioinformatics · 2003 · 8 claims · 3 setups
Evolutionary algorithms are well suited to multiobjective optimization problems with large, intractable search spaces such as SNP selection, unlike exact methods (exhaustive enumeration) or single-objective search techniques (tabu search, simulated annealing).
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Has reproduction · 30
Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.
PMID 30503143 · PMC6327112 · Cell stem cell · 2019 · 8 claims · 6 setups
A core set of 60 genes captures a continuous pseudotemporal disease axis from control to PD GBA-N370S iPSC-derived dopamine neurons (52 downregulated, 8 upregulated).
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Has reproduction · 93
Histone deacetylase SIRT6 regulates tryptophan catabolism and prevents metabolite imbalance associated with neurodegeneration.
PMID 41345108 · PMC12789597 · Nature communications · 2025 · 7 claims · 8 setups
SIRT6 is an evolutionarily conserved regulator of tryptophan catabolism that balances tryptophan usage between the kynurenine and serotonin/melatonin pathways
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Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information.
PMID 18588693 · PMC2446391 · BMC bioinformatics · 2008 · 8 claims · 5 setups
A decision tree built on 10 selected sequence-derived features classifies SAPs as Disease or Polymorphism with 82.6% accuracy and 0.607 MCC in cross-validation.
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Has reproduction
A newly identified glycosyltransferase AsRCOM provides resistance to purple curl leaf disease in agave.
PMID 37936069 · PMC10629022 · BMC genomics · 2023 · 6 claims · 5 setups
The glycosyltransferase gene AsRCOM is the most critical disease-resistance gene against agave purple curl leaf disease, and its overexpression significantly enhances resistance.
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Has reproduction · 100
Exploring Gene Expression Patterns in Alzheimer's Disease Using a Human Microarray Data Meta-Analysis.
PMID 41744654 · PMC12938635 · Biology · 2026 · 6 claims · 7 setups
AD brains show a distinct transcriptomic profile with up-regulation of immune/inflammation genes and down-regulation of synapse/neuronal-signaling genes
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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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Mass spectrometry-based biomarker discovery: toward a global proteome index of individuality.
PMID 20636062 · PMC3140421 · Annual review of analytical chemistry (Palo Alto, Calif.) · 2009 · 8 claims · 4 setups
Very few large-scale longitudinal MS-based proteomics studies have been performed to establish analytical variability relative to true biological variability.