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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Whole genome association mapping by incompatibilities and local perfect phylogenies.
PMID 17042942 · PMC1624851 · BMC bioinformatics · 2006 · 8 claims · 8 setups
Blossoc scores the perfect phylogenetic tree spanning the largest compatible region around each marker as a decision tree for case/control status to detect association
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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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Spinocerebellar ataxia type 23: a genetic update.
PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups
The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.
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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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Update of the G2D tool for prioritization of gene candidates to inherited diseases.
PMID 17478516 · PMC1933178 · Nucleic acids research · 2007 · 8 claims · 4 setups
G2D is a web server that prioritizes candidate genes for inherited diseases using three distinct algorithms based on different input information.
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Has reproduction · 51
Unveiling prognostics biomarkers of tyrosine metabolism reprogramming in liver cancer by cross-platform gene expression analyses.
PMID 32542016 · PMC7295234 · PloS one · 2020 · 6 claims · 8 setups
Five tyrosine catabolic enzymes (TAT, HPD, HGD, GSTZ1, FAH) are downregulated in HCC versus normal liver at mRNA and protein levels
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Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies.
PMID 19073697 · PMC2632920 · Nucleic acids research · 2009 · 8 claims · 5 setups
Combining high protein-interaction network scores with significant PID-related GO terms identifies novel PID candidate genes
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups
A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients
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Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network.
PMID 19728866 · PMC2768980 · Genome biology · 2009 · 6 claims · 6 setups
Integrating 16 genomic features (32 sub-features) via a naïve Bayes classifier produces a genome-scale FLN of 21,657 human genes and 22,388,609 weighted links that outperforms any individual data source for inferring functional linkages.
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Has reproduction · 74
Autoencoder Networks Decipher the Association between Lung Cancer and Alzheimer's Disease.
PMID 36518809 · PMC9744611 · Computational intelligence and neuroscience · 2022 · 7 claims · 6 setups
Autoencoder networks based on 266 shared DEGs reveal a comorbidity (positive) relationship between Alzheimer's disease and lung cancer.
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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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Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.
PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups
Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.
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DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.
PMID 19102774 · PMC2630979 · BMC medical genetics · 2008 · 8 claims · 6 setups
Variation in SYN III distal CpG island methylation is not related to schizophrenia in the population sample or in a monozygotic twin pair discordant for schizophrenia
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Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.
PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups
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
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PDA: Pooled DNA analyzer.
PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups
No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests
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IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.
PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups
Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities
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MACSIMS: multiple alignment of complete sequences information management system.
PMID 16792820 · PMC1539025 · BMC bioinformatics · 2006 · 8 claims · 5 setups
MACSIMS is a multiple alignment-based information management system combining knowledge-based database mining with ab initio sequence predictions
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Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups
A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).
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Salivary proteomics for oral cancer biomarker discovery.
PMID 18829504 · PMC2877125 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 5 setups
Subtractive salivary proteomics reveals proteins differentially present/expressed between OSCC patients and matched healthy controls.
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Proteomic surveillance of retinal autoantigens in endogenous uveitis: implication of esterase D and brain-type creatine kinase as novel autoantigens.
PMID 18552983 · PMC2426731 · Molecular vision · 2008 · 7 claims · 6 setups
Six novel candidate retinal autoantigens (β-actin, esterase D, tubulin β-2, brain-type creatine kinase, VDAC, aspartate aminotransferase) were identified by 2D-WB and mass spectrometry in EAU mice