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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CGMIM: automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes.
PMID 15796777 · PMC1274267 · BMC bioinformatics · 2005 · 8 claims · 2 setups
CGMIM is a Perl program that text-mines OMIM entries to identify cancer-gene associations and genetically-related cancer type pairs.
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Systems biology of SNPs.
PMID 16820779 · PMC1681509 · Molecular systems biology · 2006 · 8 claims · 2 setups
Co-sets are groups of enzymatic reactions that are perfectly correlated (correlation coefficient of 1) in a reconstructed metabolic network and represent functional modules.
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hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
PMID 17207965 · PMC4647941 · Genomics · 2007 · 8 claims · 7 setups
hORFeome v3.1 is a resource of 12,212 cloned human ORFs representing 10,214 genes, a 51% expansion over hORFeome v1.1
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Gene-centric characteristics of genome-wide association studies.
PMID 18060058 · PMC2092383 · PloS one · 2007 · 8 claims · 5 setups
High-density SNP chips using either direct or indirect selection approaches provide very high coverage in genic regions and capture most known common disease variants under the HapMap framework.
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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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Phenotypic categorization of genetic skin diseases reveals new relations between phenotypes, genes and pathways.
PMID 19744994 · PMC2773259 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 5 setups
560 genetic skin diseases can be decomposed into 71 elementary phenotypic features (42 dermatologic, 29 systemic) that combine to represent each disease as a point in a multidimensional phenotype space
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Building disease-specific drug-protein connectivity maps from molecular interaction networks and PubMed abstracts.
PMID 19649302 · PMC2709445 · PLoS computational biology · 2009 · 7 claims · 4 setups
A computational framework can build disease-specific drug-protein connectivity maps by integrating protein interaction networks and PubMed literature mining, without gene expression profiles from drug perturbation experiments
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An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.
PMID 19091018 · PMC2638159 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Existing SNP/disease databases are fragmented; no combined resource widely supports gene-, SNP-, and disease-related information together
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Functional coverage of the human genome by existing structures, structural genomics targets, and homology models.
PMID 16118666 · PMC1188274 · PLoS computational biology · 2005 · 8 claims · 5 setups
Existing PDB structures provide single-domain coverage for 37% of functional classes in the human genome and complete (whole-protein) structure coverage for 25%.
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DAVID Knowledgebase: a gene-centered database integrating heterogeneous gene annotation resources to facilitate high-throughput gene functional analysis.
PMID 17980028 · PMC2186358 · BMC bioinformatics · 2007 · 7 claims · 3 setups
The DAVID Gene Concept, a single-linkage algorithm, merges gene clusters from Entrez Gene, UniRef100, and PIR-NREF100 that share protein IDs and species into unified DAVID gene clusters, improving cross-referencing between NCBI and UniProt systems
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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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Integration of text- and data-mining using ontologies successfully selects disease gene candidates.
PMID 15767279 · PMC1065256 · Nucleic acids research · 2005 · 7 claims · 6 setups
Integrating eVOC anatomical ontology-based text-mining of PubMed abstracts with data-mining of gene expression annotation successfully selects and prioritizes candidate disease genes
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The RCSB PDB information portal for structural genomics.
PMID 16381872 · PMC1347482 · Nucleic acids research · 2006 · 7 claims · 5 setups
The RCSB PDB Structural Genomics Information Portal integrates three resources: Structural Genomics Initiatives, Targets (TargetDB/PepcDB), and Structures (functional coverage analysis).
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ChimerDB--a knowledgebase for fusion sequences.
PMID 16381848 · PMC1347382 · Nucleic acids research · 2006 · 8 claims · 6 setups
ChimerDB integrates bioinformatics analysis of mRNA/EST sequences, manually collected literature data, and OMIM translocation data into a single fusion sequence knowledgebase
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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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ChimerDB 2.0--a knowledgebase for fusion genes updated.
PMID 19906715 · PMC2808913 · Nucleic acids research · 2010 · 8 claims · 4 setups
ChimerDB 2.0 is an updated knowledgebase integrating fusion transcripts from GenBank transcriptome analysis with Sanger CGP, OMIM, PubMed, and Mitelman's database data.
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Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
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Distribution and effects of nonsense polymorphisms in human genes.
PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups
Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.
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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