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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": 36,
"uri": "http://edamontology.org/topic_3930",
"label": "Immunogenetics",
"synonyms": [
"Immune system genetics",
"Immunology and genetics",
"Immunogenes",
"Immungenetics"
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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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{
"id": 11,
"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": 15,
"uri": "http://edamontology.org/topic_3517",
"label": "GWAS study",
"synonyms": [
"GWAS",
"Genome-wide association study",
"GWAS analysis"
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"description": "Genome-wide association study experiments."
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{
"id": 119,
"uri": "http://edamontology.org/topic_3292",
"label": "Biochemistry",
"synonyms": [
"Glycomics",
"Phytochemistry",
"Biological chemistry",
"Pathobiochemistry"
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"description": "Chemical substances and physico-chemical processes and that occur within living organisms."
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{
"id": 70,
"uri": "http://edamontology.org/topic_0623",
"label": "Gene and protein families",
"synonyms": [
"Gene system",
"Gene families",
"Gene family",
"Protein sequence classification",
"Protein families",
"Genes, gene family or system"
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"description": "Particular gene(s), gene family or other gene group or system and their encoded proteins.Primarily the classification of proteins (from sequence or structural data) into clusters, groups, families etc., curation of a particular protein or protein family, or any other proteins that have been classified as members of a common group."
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{
"id": 63,
"uri": "http://edamontology.org/topic_3053",
"label": "Genetics",
"synonyms": [
"Genes",
"Heredity"
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"description": "The study of genes, genetic variation and heredity in living organisms."
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{
"id": 117,
"uri": "http://edamontology.org/topic_0114",
"label": "Gene structure",
"synonyms": [
"Fusion genes",
"Gene features"
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"description": "Gene structure, regions which make an RNA product and features such as promoters, coding regions, gene fusion, splice sites etc."
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"id": 26,
"uri": "http://edamontology.org/topic_3512",
"label": "Gene transcripts",
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"Exons",
"Introns",
"PolyA site",
"EST",
"Gene transcript features",
"Transit peptide coding sequence",
"mRNA",
"Fusion transcripts",
"Coding RNA",
"PolyA signal",
"mRNA features",
"cDNA",
"Signal peptide coding sequence"
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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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{
"id": 64,
"uri": "http://edamontology.org/topic_3172",
"label": "Metabolomics",
"synonyms": [
"Exometabolomics",
"Metabolites",
"Metabonomics",
"MS-based metabolomics",
"MS-based untargeted metabolomics",
"NMR-based metabolomics",
"Metabolome",
"LC-MS-based metabolomics",
"MS-based targeted metabolomics",
"Mass spectrometry-based metabolomics"
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"description": "The systematic study of metabolites, the chemical processes they are involved, and the chemical fingerprints of specific cellular processes in a whole cell, tissue, organ or organism."
},
{
"id": 72,
"uri": "http://edamontology.org/topic_0622",
"label": "Genomics",
"synonyms": [
"Exomes",
"Synthetic genomics",
"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": 123,
"uri": "http://edamontology.org/topic_3676",
"label": "Exome sequencing",
"synonyms": [
"Exome",
"Exome capture",
"WES",
"Whole exome sequencing",
"Targeted exome capture",
"Exome analysis"
],
"description": "Laboratory technique to sequence all the protein-coding regions in a genome, i.e., the exome."
},
{
"id": 71,
"uri": "http://edamontology.org/topic_3299",
"label": "Evolutionary biology",
"synonyms": [
"Evolution"
],
"description": "The evolutionary processes, from the genetic to environmental scale, that produced life in all its diversity."
},
{
"id": 131,
"uri": "http://edamontology.org/topic_3305",
"label": "Public health and epidemiology",
"synonyms": [
"Epidemiology",
"Public health"
],
"description": "Topic concerning the the patterns, cause, and effect of disease within populations."
},
{
"id": 125,
"uri": "http://edamontology.org/topic_3407",
"label": "Endocrinology and metabolism",
"synonyms": [
"Endocrine disorders",
"Metabolism",
"Endocrinology",
"Metabolic disorders"
],
"description": "The branch of medicine dealing with diseases of endocrine organs, hormone systems, their target organs, and disorders of the pathways of glucose and lipid metabolism."
},
{
"id": 85,
"uri": "http://edamontology.org/topic_0610",
"label": "Ecology",
"synonyms": [
"Ecological informatics",
"Ecoinformatics",
"Ecosystem science",
"Computational ecology"
],
"description": "The ecological and environmental sciences and especially the application of information technology (ecoinformatics)."
},
{
"id": 93,
"uri": "http://edamontology.org/topic_0199",
"label": "Genetic variation",
"synonyms": [
"DNA variation",
"Somatic mutations",
"Genomic variation",
"Mutation",
"Polymorphism"
],
"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."
},
{
"id": 39,
"uri": "http://edamontology.org/topic_0097",
"label": "Nucleic acid structure analysis",
"synonyms": [
"DNA structure",
"Nucleic acid structure",
"Nucleic acid denaturation",
"DNA melting",
"RNA structure alignment",
"RNA structure",
"Nucleic acid thermodynamics",
"RNA alignment"
],
"description": "The archival, curation, processing and analysis of nucleic acid structural information, such as whole structures, structural features and alignments, and associated annotation."
},
{
"id": 128,
"uri": "http://edamontology.org/topic_3175",
"label": "Structural variation",
"synonyms": [
"DNA structural variation",
"Genomic structural variation",
"Deletion",
"Duplication",
"Insertion",
"Inversion",
"Translocation"
],
"description": "Variation in chromosome structure including microscopic and submicroscopic types of variation such as deletions, duplications, copy-number variants, insertions, inversions and translocations."
},
{
"id": 27,
"uri": "http://edamontology.org/topic_0203",
"label": "Gene expression",
"synonyms": [
"DNA chips",
"DNA microarrays",
"Gene translation",
"Transcription",
"Expression",
"Gene expression profiling",
"Codon usage",
"Gene transcription"
],
"description": "The analysis of levels and patterns of synthesis of gene products (proteins and functional RNA) including interpretation in functional terms of gene expression data."
}
]
}