DISEASES: text mining and data integration of disease-gene associations.
- Authors
- Pletscher-Frankild, Sune; PallejΓ , Albert; Tsafou, Kalliopi; Binder, Janos X; Jensen, Lars Juhl
- Year
- 2015
- Journal
- Methods (San Diego, Calif.)
- PMID
- 25484339
- DOI
- 10.1016/j.ymeth.2014.11.020
Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases. The DISEASES resource is accessible through a web interface at http://diseases.jensenlab.org/, where the text-mining software and all associations are also freely available for download.
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| A Topic Modeling Analysis of TCGA Breast and Lung Cancer Transcriptomic Data. | Valle F et al. | β | 2020 | β |
| Cellular Mechanisms Triggered by the Cotreatment of Resveratrol and Doxorubicin in Breast Cancer: A Translational In Vitro-In Silico Model. | Vargas JE et al. | β | 2020 | β |
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| Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. | Labonne JDJ et al. | β | 2020 | β |
| Constructing knowledge graphs and their biomedical applications. | Nicholson DN et al. | β | 2020 | β |
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| Deciphering crucial genes in coeliac disease by bioinformatics analysis. | Noori E et al. | β | 2020 | β |
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| DISNET: a framework for extracting phenotypic disease information from public sources. | Lagunes-GarcΓa G et al. | β | 2020 | β |
| Ecological Sensing Through Taste and Chemosensation Mediates Inflammation: A Biological Anthropological Approach. | Giuliani C et al. | β | 2020 | β |
| Epigenetic Variation Analysis Leads to Biomarker Discovery in Gastric Adenocarcinoma. | Zhang Y et al. | β | 2020 | β |
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| Identification of Multiple Sclerosis key genetic factors through multi-staged data mining. | Navaderi M et al. | β | 2020 | β |
| Identification of Novel Potential Genes Involved in Cancer by Integrated Comparative Analyses. | Monticolo F et al. | β | 2020 | β |
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| Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis. | Yumiceba V et al. | β | 2020 | β |
| Oral lichen planus interactome reveals CXCR4 and CXCL12 as candidate therapeutic targets. | Rivera C et al. | β | 2020 | β |
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| PertInInt: An Integrative, Analytical Approach to Rapidly Uncover Cancer Driver Genes with Perturbed Interactions and Functionalities. | Kobren SN et al. | β | 2020 | β |
| Proteomics analysis of FUS mutant human motoneurons reveals altered regulation of cytoskeleton and other ALS-linked proteins via 3'UTR binding. | Garone MG et al. | β | 2020 | β |
| Reduction of Liver Metastasis Stiffness Improves Response to Bevacizumab in Metastatic Colorectal Cancer. | Shen Y et al. | β | 2020 | β |
| RGS6 Mediates Effects of Voluntary Running on Adult Hippocampal Neurogenesis. | Gao Y et al. | β | 2020 | β |
| Semantic text mining in early drug discovery for type 2 diabetes. | Hansson LK et al. | β | 2020 | β |
| Study of genetic correlation between children's sleep and obesity. | Mei H et al. | β | 2020 | β |
| Translating traditional herbal formulas into modern drugs: a network-based analysis of Xiaoyao decoction. | Zhang D et al. | β | 2020 | β |
| Up-regulation of Sirt1/miR-149-5p signaling may play a role in resveratrol induced protection against ischemia via p53 in rat brain. | Teertam SK et al. | β | 2020 | β |
| A Guide to Dictionary-Based Text Mining. | Cook HV et al. | β | 2019 | β |
| A machine-compiled database of genome-wide association studies. | Kuleshov V et al. | β | 2019 | β |
| Analyzing a co-occurrence gene-interaction network to identify disease-gene association. | Al-Aamri A et al. | β | 2019 | β |
| A noncanonical role for the engulfment gene ELMO1 in neutrophils that promotes inflammatory arthritis. | Arandjelovic S et al. | β | 2019 | β |
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| Automated assessment of biological database assertions using the scientific literature. | Bouadjenek MR et al. | β | 2019 | β |
| Classification of Trispanins: A Diverse Group of Proteins That Function in Membrane Synthesis and Transport Mechanisms. | Attwood MM et al. | β | 2019 | β |
| Common Neurodegeneration-Associated Proteins Are Physiologically Expressed by Human B Lymphocytes and Are Interconnected via the Inflammation/Autophagy-Related Proteins TRAF6 and SQSTM1. | Nataf S et al. | β | 2019 | β |
| Comparative Analysis of Blood Plasma Proteome in Patients with Renal Cell Carcinoma. | Kaysheva AL et al. | β | 2019 | β |
| Cytoscape StringApp: Network Analysis and Visualization of Proteomics Data. | Doncheva NT et al. | β | 2019 | β |
| Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine. | Ahmed Z et al. | β | 2019 | β |
| Design, implementation, and operation of a rapid, robust named entity recognition web service. | Pletscher-Frankild S et al. | β | 2019 | β |
| Disease classification: from phenotypic similarity to integrative genomics and beyond. | Dozmorov MG | β | 2019 | β |
| Distinct signatures of lung cancer types: aberrant mucin O-glycosylation and compromised immune response. | Lucchetta M et al. | β | 2019 | β |
| Exploring the dark genome: implications for precision medicine. | Oprea TI | β | 2019 | β |
| Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates AΞ², tau, immunity and lipid processing. | Kunkle BW et al. | β | 2019 | β |
| Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients. | Bhuvaneshwar K et al. | β | 2019 | β |
| Global Genetics Research in Prostate Cancer: A Text Mining and Computational Network Theory Approach. | Azam MF et al. | β | 2019 | β |
| HACER: an atlas of human active enhancers to interpret regulatory variants. | Wang J et al. | β | 2019 | β |
| How to Develop a Drug Target Ontology: KNowledge Acquisition and Representation Methodology (KNARM). | KΓΌΓ§ΓΌk McGinty H et al. | β | 2019 | β |
| HumanNet v2: human gene networks for disease research. | Hwang S et al. | β | 2019 | β |
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| Inferring Disease-Associated MicroRNAs Using Semi-supervised Multi-Label Graph Convolutional Networks. | Pan X et al. | β | 2019 | β |
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| NGSEA: Network-Based Gene Set Enrichment Analysis for Interpreting Gene Expression Phenotypes with Functional Gene Sets. | Han H et al. | β | 2019 | β |
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| Protein-Protein Interaction Network Analysis Reveals Several Diseases Highly Associated with Polycystic Ovarian Syndrome. | Ramly B et al. | β | 2019 | β |
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| Selective Estrogen Receptor Modulators Enhance CNS Remyelination Independent of Estrogen Receptors. | Rankin KA et al. | β | 2019 | β |
| The Promoter Regions of Intellectual Disability-Associated Genes Are Uniquely Enriched in LTR Sequences of the MER41 Primate-Specific Endogenous Retrovirus: An Evolutionary Connection Between Immunity and Cognition. | Nataf S et al. | β | 2019 | β |
| Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives. | Xu J et al. | β | 2019 | β |
| Xiaoerfupi alleviates the symptoms of functional dyspepsia by regulating the HTR3A and c-FOS. | Ji E et al. | β | 2019 | β |
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| Adding biological meaning to human protein-protein interactions identified by yeast two-hybrid screenings: A guide through bioinformatics tools. | Felgueiras J et al. | β | 2018 | β |
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| Biotea: semantics for Pubmed Central. | Garcia A et al. | β | 2018 | β |
| Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness. | Perl K et al. | β | 2018 | β |
| Controllability in an islet specific regulatory network identifies the transcriptional factor NFATC4, which regulates Type 2 Diabetes associated genes. | Sharma A et al. | β | 2018 | β |
| CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog. | Pusapati GV et al. | β | 2018 | β |
| Development of Human Face Literature Database Using Text Mining Approach: Phase I. | Kaur P et al. | β | 2018 | β |
| Drug Target Prioritization for Alzheimer's Disease Using Protein Interaction Network Analysis. | Podder A et al. | β | 2018 | β |
| eRAM: encyclopedia of rare disease annotations for precision medicine. | Jia J et al. | β | 2018 | β |
| HEDD: Human Enhancer Disease Database. | Wang Z et al. | β | 2018 | β |
| ILDgenDB: integrated genetic knowledge resource for interstitial lung diseases (ILDs). | Mishra S et al. | β | 2018 | β |
| Inverse changes in plasma tetranectin and titin levels in patients with type 2 diabetes mellitus: a potential predictor of acute myocardial infarction? | Rahim MAA et al. | β | 2018 | β |
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| ModulOmics: Integrating Multi-Omics Data to Identify Cancer Driver Modules | Silverbush D et al. | β | 2018 | β |
| Multiclass classification for skin cancer profiling based on the integration of heterogeneous gene expression series. | GΓ‘lvez JM et al. | β | 2018 | β |
| Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions. | Suratanee A et al. | β | 2018 | β |
| New Perspectives, Opportunities, and Challenges in Exploring the Human Protein Kinome. | Wilson LJ et al. | β | 2018 | β |
| Optimized Protein-Protein Interaction Network Usage with Context Filtering. | Pietrosemoli N et al. | β | 2018 | β |
| ParaBTM: A Parallel Processing Framework for Biomedical Text Mining on Supercomputers. | Xing Y et al. | β | 2018 | β |
| PedAM: a database for Pediatric Disease Annotation and Medicine. | Jia J et al. | β | 2018 | β |
| Phenotype Instance Verification and Evaluation Tool (PIVET): A Scaled Phenotype Evidence Generation Framework Using Web-Based Medical Literature. | Henderson J et al. | β | 2018 | β |
| Searching the overlap between network modules with specific betweeness (S2B) and its application to cross-disease analysis. | Garcia-Vaquero ML et al. | β | 2018 | β |
| The research on gene-disease association based on text-mining of PubMed. | Zhou J et al. | β | 2018 | β |
| TISSUES 2.0: an integrative web resource on mammalian tissue expression. | Palasca O et al. | β | 2018 | β |
| Toppar: an interactive browser for viewing association study results. | Juliusdottir T et al. | β | 2018 | β |
| Uncovering new disease indications for G-protein coupled receptors and their endogenous ligands. | Freudenberg JM et al. | β | 2018 | β |
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| An analysis of disease-gene relationship from Medline abstracts by DigSee. | Kim J et al. | β | 2017 | β |
| A Review of Recent Advancement in Integrating Omics Data with Literature Mining towards Biomedical Discoveries. | Raja K et al. | β | 2017 | β |
| Cancer subtype prediction from a pathway-level perspective by using a support vector machine based on integrated gene expression and protein network. | Hung FH et al. | β | 2017 | β |
| Chronic obstructive pulmonary disease candidate gene prioritization based on metabolic networks and functional information. | Wang X et al. | β | 2017 | β |
| Context-dependent compensation among phosphatidylserine-recognition receptors. | Penberthy KK et al. | β | 2017 | β |
| Cross-Species Genome-Wide Identification of Evolutionary Conserved MicroProteins. | Straub D et al. | β | 2017 | β |
| Disease Risk Assessment Using a Voronoi-Based Network Analysis of Genes and Variants Scores. | Chen L et al. | β | 2017 | β |
| Drug target ontology to classify and integrate drug discovery data. | Lin Y et al. | β | 2017 | β |
| GWAB: a web server for the network-based boosting of human genome-wide association data. | Shim JE et al. | β | 2017 | β |
| In silico prediction of lncRNA function using tissue specific and evolutionary conserved expression. | Perron U et al. | β | 2017 | β |
| In silico prediction of novel therapeutic targets using gene-disease association data. | Ferrero E et al. | β | 2017 | β |
| Integrative Single-Cell Transcriptomics Reveals Molecular Networks Defining Neuronal Maturation During Postnatal Neurogenesis. | Gao Y et al. | β | 2017 | β |
| Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity. | Belling K et al. | β | 2017 | β |
| Landscape and variation of novel retroduplications in 26 human populations. | Zhang Y et al. | β | 2017 | β |
| Literature evidence in open targets - a target validation platform. | Kafkas Ε et al. | β | 2017 | β |
| MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search. | Rappaport N et al. | β | 2017 | β |
| MPTM: A tool for mining protein post-translational modifications from literature. | Sun D et al. | β | 2017 | β |
| (Neuro)degenerated Mitochondria-ER contacts. | De Mario A et al. | β | 2017 | β |
| PCOSBase: a manually curated database of polycystic ovarian syndrome. | Afiqah-Aleng N et al. | β | 2017 | β |
| PheKnow-Cloud: A Tool for Evaluating High-Throughput Phenotype Candidates using Online Medical Literature. | Henderson J et al. | β | 2017 | β |
| Prioritizing chronic obstructive pulmonary disease (COPD) candidate genes in COPD-related networks. | Zhang Y et al. | β | 2017 | β |
| Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect. | Rappaport N et al. | β | 2017 | β |
| Reverse Nearest Neighbor Search on a Protein-Protein Interaction Network to Infer Protein-Disease Associations. | Suratanee A et al. | β | 2017 | β |
| Systematic integration of biomedical knowledge prioritizes drugs for repurposing. | Himmelstein DS et al. | β | 2017 | β |
| The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible. | Szklarczyk D et al. | β | 2017 | β |
| TIN-X: target importance and novelty explorer. | Cannon DC et al. | β | 2017 | β |
| Towards a more molecular taxonomy of disease. | Park J et al. | β | 2017 | β |
| An integer programming framework for inferring disease complexes from network data. | Mazza A et al. | β | 2016 | β |
| An Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease Associations. | Mullen J et al. | β | 2016 | β |
| Challenges in identifying cancer genes by analysis of exome sequencing data. | Hofree M et al. | β | 2016 | β |
| Data integration of structured and unstructured sources for assigning clinical codes to patient stays. | Scheurwegs E et al. | β | 2016 | β |
| DTMiner: identification of potential disease targets through biomedical literature mining. | Xu D et al. | β | 2016 | β |
| Enhancer methylation dynamics contribute to cancer plasticity and patient mortality. | Bell RE et al. | β | 2016 | β |
| EXTRACT: interactive extraction of environment metadata and term suggestion for metagenomic sample annotation. | Pafilis E et al. | β | 2016 | β |
| Extraction and analysis of signatures from the Gene Expression Omnibus by the crowd. | Wang Z et al. | β | 2016 | β |
| Genetic and neuroendocrine regulation of the postpartum brain. | Gammie SC et al. | β | 2016 | β |
| Genetics of Schizophrenia: Historical Insights and Prevailing Evidence. | van de Leemput J et al. | β | 2016 | β |
| Lynx: a knowledge base and an analytical workbench for integrative medicine. | Sulakhe D et al. | β | 2016 | β |
| Overview of the interactive task in BioCreative V. | Wang Q et al. | β | 2016 | β |
| Review and Literature Mining on Proteostasis Factors and Cancer. | Carvalho AS et al. | β | 2016 | β |
| SciLite: a platform for displaying text-mined annotations as a means to link research articles with biological data. | Venkatesan A et al. | β | 2016 | β |
| The environment ontology in 2016: bridging domains with increased scope, semantic density, and interoperation. | Buttigieg PL et al. | β | 2016 | β |
| The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. | Rouillard AD et al. | β | 2016 | β |
| Topology based identification and comprehensive classification of four-transmembrane helix containing proteins (4TMs) in the human genome. | Attwood MM et al. | β | 2016 | β |
| Utilizing yeast chemogenomic profiles for the prediction of pharmacogenomic associations in humans. | Silberberg Y et al. | β | 2016 | β |
| Allelic Spectra of Risk SNPs Are Different for Environment/Lifestyle Dependent versus Independent Diseases. | Gorlov IP et al. | β | 2015 | β |
| Comprehensive comparison of large-scale tissue expression datasets. | Santos A et al. | β | 2015 | β |
| DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations. | Suratanee A et al. | β | 2015 | β |
| Finding Text-Supported Gene-to-Disease Co-appearances with MOPED-Digger. | Kolker E et al. | β | 2015 | β |
| GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes. | Eleftheriou SV et al. | β | 2015 | β |
| HOODS: finding context-specific neighborhoods of proteins, chemicals and diseases. | Palleja A et al. | β | 2015 | β |
| SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies. | Finno CJ et al. | β | 2015 | β |
| Text mining of biomedical literature: doing well, but we could be doing better. | Andrade-Navarro M et al. | β | 2015 | β |
| Addiction and reward-related genes show altered expression in the postpartum nucleus accumbens. | Zhao C et al. | β | 2014 | β |