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"uri": "http://edamontology.org/topic_0204",
"label": "Gene regulation",
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"description": "The regulation of gene expression."
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"id": 117,
"uri": "http://edamontology.org/topic_0114",
"label": "Gene structure",
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"uri": "http://edamontology.org/topic_3053",
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"description": "The study of genes, genetic variation and heredity in living organisms."
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{
"id": 93,
"uri": "http://edamontology.org/topic_0199",
"label": "Genetic variation",
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"description": "Stable, naturally occuring mutations in a nucleotide sequence including alleles, naturally occurring mutations such as single base nucleotide substitutions, deletions and insertions, RFLPs and other polymorphisms."
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"id": 26,
"uri": "http://edamontology.org/topic_3512",
"label": "Gene transcripts",
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"mRNA",
"Fusion transcripts",
"Coding RNA",
"PolyA signal",
"mRNA features",
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"description": "Transcription of DNA into RNA and features of a messenger RNA (mRNA) molecules including precursor RNA, primary (unprocessed) transcript and fully processed molecules."
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"uri": "http://edamontology.org/topic_0622",
"label": "Genomics",
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"Genome annotation",
"Whole genomes",
"Personal genomics",
"Genomes",
"Viral genomics"
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"description": "Whole genomes of one or more organisms, or genomes in general, such as meta-information on genomes, genome projects, gene names etc."
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"id": 62,
"uri": "http://edamontology.org/topic_0625",
"label": "Genotype and phenotype",
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"description": "The study of genetic constitution of a living entity, such as an individual, and organism, a cell and so on, typically with respect to a particular observable phenotypic traits, or resources concerning such traits, which might be an aspect of biochemistry, physiology, morphology, anatomy, development and so on."
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"uri": "http://edamontology.org/topic_3517",
"label": "GWAS study",
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"GWAS analysis"
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"description": "Genome-wide association study experiments."
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"uri": "http://edamontology.org/topic_2815",
"label": "Human biology",
"synonyms": [
"Humans"
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"description": "The study of human beings in general, including the human genome and proteome."
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"id": 95,
"uri": "http://edamontology.org/topic_3574",
"label": "Human genetics",
"synonyms": null,
"description": "The study of inheritance in human beings."
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"id": 47,
"uri": "http://edamontology.org/topic_3382",
"label": "Imaging",
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"Diffraction experiment",
"Microscopy imaging"
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"description": "The visual representation of an object."
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"id": 36,
"uri": "http://edamontology.org/topic_3930",
"label": "Immunogenetics",
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"description": "A biomedical field that bridges immunology and genetics, to study the genetic basis of the immune system."
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"uri": "http://edamontology.org/topic_3948",
"label": "Immunoinformatics",
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"id": 110,
"uri": "http://edamontology.org/topic_0804",
"label": "Immunology",
"synonyms": null,
"description": "The application of information technology to immunology such as immunological processes, immunological genes, proteins and peptide ligands, antigens and so on."
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{
"id": 91,
"uri": "http://edamontology.org/topic_3324",
"label": "Infectious disease",
"synonyms": [
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"Communicable disease"
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"description": "The branch of medicine that deals with the prevention, diagnosis and management of transmissable disease with clinically evident illness resulting from infection with pathogenic biological agents (viruses, bacteria, fungi, protozoa, parasites and prions)."
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"id": 17,
"uri": "http://edamontology.org/topic_0605",
"label": "Informatics",
"synonyms": [
"Information science",
"Knowledge management",
"Information management"
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"description": "The study and practice of information processing and use of computer information systems."
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"id": 100,
"uri": "http://edamontology.org/topic_3068",
"label": "Literature and language",
"synonyms": [
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"Literature",
"Language",
"References",
"Documentation",
"Citations",
"Bibliography"
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"description": "The scientific literature, language processing, reference information, and documentation."
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"id": 126,
"uri": "http://edamontology.org/topic_3474",
"label": "Machine learning",
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"Active learning",
"Supervised learning",
"Neural networks",
"Knowledge representation",
"Reinforcement learning",
"Ensembl learning",
"Unsupervised learning",
"Recommender system"
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"description": "A topic concerning the application of artificial intelligence methods to algorithms, in order to create methods that can learn from data in order to generate an ouput, rather than relying on explicitly encoded information only."
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{
"id": 12,
"uri": "http://edamontology.org/topic_0102",
"label": "Mapping",
"synonyms": [
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"Synteny",
"Genetic linkage",
"Linkage mapping"
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"description": "The mapping of complete (typically nucleotide) sequences. Mapping (in the sense of short read alignment, or more generally, just alignment) has application in RNA-Seq analysis (mapping of transcriptomics reads), variant discovery (e.g. mapping of exome capture), and re-sequencing (mapping of WGS reads)."
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{
"id": 46,
"uri": "http://edamontology.org/topic_3387",
"label": "Marine biology",
"synonyms": null,
"description": "The study of organisms in the ocean or brackish waters."
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}