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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A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.
PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups
A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD
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Human neuronal cell protein responses to Nipah virus infection.
PMID 17553172 · PMC1896155 · Virology journal · 2007 · 8 claims · 4 setups
NiV infection induces differential protein expression in SK-N-MC human neuronal cells detectable by 2D-PAGE
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An analysis of human microRNA and disease associations.
PMID 18923704 · PMC2559869 · PloS one · 2008 · 8 claims · 8 setups
MicroRNAs tend to show similar dysfunctional evidence (both up- or both down-regulated) for diseases within the same disease cluster, and different dysfunctional evidence between different disease clusters.
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Exhaustive prediction of disease susceptibility to coding base changes in the human genome.
PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.
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Identification and analysis of co-occurrence networks with NetCutter.
PMID 18781200 · PMC2526157 · PloS one · 2008 · 8 claims · 4 setups
Random sampling from a complete permutation set of the bipartite graph permits co-occurrence analysis with optimal stringency, and the edge-swapping (ES) model closely approximates this and is the preferred null-model among six tested.
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Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.
PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups
Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome
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Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.
PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.
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Widespread ultraconservation divergence in primates.
PMID 18492662 · PMC2464743 · Molecular biology and evolution · 2008 · 8 claims · 4 setups
The number of UCEs has decreased throughout primate evolution, from ~1,000 in ancestral primates to 635 in modern humans.
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An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.
PMID 18445289 · PMC2386494 · BMC bioinformatics · 2008 · 8 claims · 6 setups
Using RNAsubopt suboptimal solutions computed once for the wild-type sequence, specific multiple-point mutations likely to cause conformational rearrangement can be selected without brute-force enumeration.
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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.
PMID 19888326 · PMC2765618 · PloS one · 2009 · 7 claims · 4 setups
The frequency of SAA1 alpha/alpha homozygotes is much higher among Armenian FMF patients (24%) than Karabakhian FMF patients (4%)
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Discordance of species trees with their most likely gene trees.
PMID 16733550 · PMC1464820 · PLoS genetics · 2006 · 7 claims · 2 setups
For any species tree topology with n ≥ 5 taxa, there exist branch lengths for which the most likely gene tree topology (an 'anomalous gene tree') differs from the species tree topology.
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Imputation-based analysis of association studies: candidate regions and quantitative traits.
PMID 17676998 · PMC1934390 · PLoS genetics · 2007 · 8 claims · 2 setups
Imputation-based Bayesian regression increases power to detect association compared with standard single-SNP tests, even when the causal variant is directly typed
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Quantitative analysis of single nucleotide polymorphisms within copy number variation.
PMID 19093001 · PMC2600609 · PloS one · 2008 · 8 claims · 2 setups
Copy number variation is a major factor in HWE violation for SNPs with small minor allele frequency, large sample size, and 0-1% genotyping error rate
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nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms.
PMID 15980516 · PMC1160133 · Nucleic acids research · 2005 · 6 claims · 4 setups
nsSNPAnalyzer is a web server that predicts whether a query nsSNP is disease-associated or functionally neutral using a Random Forest classifier combining structural and evolutionary information
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The PeptideAtlas project.
PMID 16381952 · PMC1347403 · Nucleic acids research · 2006 · 8 claims · 5 setups
PeptideAtlas provides an automated repository that identifies peptides by MS/MS, statistically validates identifications, and maps them to eukaryotic genomes to enable data exchange and integration with genomic data.
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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 · 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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Has reproduction · 93
Experimental identification and in silico prediction of bacterivory in green algae.
PMID 33649548 · PMC8245530 · The ISME journal · 2021 · 7 claims · 6 setups
Five prasinophyte strains (Pterosperma cristatum NIES626, Pyramimonas parkeae CCMP726, Pyramimonas parkeae NIES254, Nephroselmis pyriformis RCC618, Dolichomastix tenuilepis CCMP3274) ingest live fluorescently labeled bacteria, detected by microscopy and/or flow cytometry
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Has reproduction · 84
Genetically engineered stem cell-derived retinal grafts for improved retinal reconstruction after transplantation.
PMID 34409267 · PMC8361135 · iScience · 2021 · 8 claims · 6 setups
Bhlhb4−/− and Islet1−/− pluripotent cell lines differentiate into retinal organoids with similar timing, morphology, and gene expression to wt lines up to around DD15
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Has reproduction · 70
Circulating mucosal-associated invariant T cells identify patients responding to anti-PD-1 therapy.
PMID 33723257 · PMC7961017 · Nature communications · 2021 · 7 claims · 7 setups
Proportions of activated and proliferating CD8+ T cells (cluster C16/activated EM) are significantly higher in responders before and during therapy