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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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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Mapping proteins to disease terminologies: from UniProt to MeSH.
PMID 18460185 · PMC2367626 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Developed a three-step procedure (disease name extraction, exact matching, partial/similarity-based matching) to map UniProtKB/Swiss-Prot disease names to MeSH terms
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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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Upgrades to StellaBase facilitate medical and genetic studies on the starlet sea anemone, Nematostella vectensis.
PMID 17982171 · PMC2238866 · Nucleic acids research · 2008 · 6 claims · 5 setups
StellaBase Disease houses homology data for 155,904 invertebrate isoforms of human disease genes across four model systems, including 14,874 predicted Nematostella genes
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SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry.
PMID 19036792 · PMC2686442 · Nucleic acids research · 2009 · 8 claims · 7 setups
SysPIMP is a web-based platform integrating disease mutation databases with X!Tandem and BLAST to identify disease-related mutated proteins from MS results
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Functional annotation and identification of candidate disease genes by computational analysis of normal tissue gene expression data.
PMID 18560577 · PMC2409962 · PloS one · 2008 · 7 claims · 5 setups
Ranked Coexpression Groups (RCG) built from k=6 nearest coexpressed genes, combined with a majority-rule functional characterization, integrate multiple datasets/coexpression measures to generate high-confidence functional annotation predictions
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Network properties of complex human disease genes identified through genome-wide association studies.
PMID 19956617 · PMC2779513 · PloS one · 2009 · 7 claims · 6 setups
Complex disease genes are significantly less central (lower degree/closeness, higher eccentricity) in the human interactome than essential and monogenic disease genes, occupying an intermediate niche between monogenic disease genes and non-disease genes
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Has reproduction · 87
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
A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.
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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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Commonality of functional annotation: a method for prioritization of candidate genes from genome-wide linkage studies.
PMID 18263617 · PMC2275105 · Nucleic acids research · 2008 · 8 claims · 7 setups
Genes correlated with a common complex trait are more likely to share GO functional annotations than genes not correlated with that trait
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Improvements to cardiovascular gene ontology.
PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups
Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.
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Comparative Toxicogenomics Database: a knowledgebase and discovery tool for chemical-gene-disease networks.
PMID 18782832 · PMC2686584 · Nucleic acids research · 2009 · 8 claims · 5 setups
CTD is a manually curated knowledgebase that integrates chemical-gene interactions, chemical-disease relationships, and gene-disease relationships into a chemical-gene-disease triad
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Identifying alternative hyper-splicing signatures in MG-thymoma by exon arrays.
PMID 18545673 · PMC2409220 · PloS one · 2008 · 8 claims · 6 setups
An integrative ad-hoc functional GO analysis combining threshold-based (Fisher exact/hypergeometric) and threshold-free (Kolmogorov-Smirnov) statistics, plus term-to-parent comparisons, detects disease-relevant splicing events from exon array data.
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Technical challenges in using human induced pluripotent stem cells to model disease.
PMID 19951687 · PMC2921621 · Cell stem cell · 2009 · 8 claims · 8 setups
hiPSCs generated from patient somatic cells (skin, blood) can be differentiated into disease-relevant cell types to model disease pathogenesis in vitro
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A biomedically enriched collection of 7000 human ORF clones.
PMID 18231609 · PMC2211400 · PloS one · 2008 · 8 claims · 4 setups
Produced and made available over 7000 fully sequence-verified plasmid ORF clones representing over 3400 unique human genes, in both closed (stop codon) and fusion (no stop codon) formats.
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Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.
PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups
Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis
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A statistical framework for consolidating "sibling" probe sets for Affymetrix GeneChip data.
PMID 18435860 · PMC2397416 · BMC genomics · 2008 · 7 claims · 4 setups
A two-way ANOVA model with a treatment x probe-set interaction term can automatically determine whether sibling probe sets for a gene behave similarly (non-significant interaction, consolidate) or differently (significant interaction, treat as independent)
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Gene- and evidence-based candidate gene selection for schizophrenia and gene feature analysis.
PMID 19944577 · PMC2826526 · Artificial intelligence in medicine · 2010 · 8 claims · 5 setups
The SCOR method outperforms the CCOR method for prioritizing schizophrenia candidate genes
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Has reproduction · 81
Macrophages on the run: Exercise balances macrophage polarization for improved health.
PMID 39476967 · PMC11585839 · Molecular metabolism · 2024 · 8 claims · 7 setups
Immediate/acute exercise triggers an M1 (pro-inflammatory) macrophage polarization surge.
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L2L: a simple tool for discovering the hidden significance in microarray expression data.
PMID 16168088 · PMC1242216 · Genome biology · 2005 · 8 claims · 4 setups
L2L systematically compares a user's differentially expressed gene list against a database of published differentially expressed gene lists to find statistically significant overlaps and generate hypotheses about shared mechanisms