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{
"id": 40,
"uri": "http://edamontology.org/topic_0654",
"label": "DNA",
"synonyms": [
"Ancient DNA",
"DNA analysis",
"Chromosomes"
],
"description": "DNA sequences and structure, including processes such as methylation and replication."
},
{
"id": 23,
"uri": "http://edamontology.org/topic_3168",
"label": "Sequencing",
"synonyms": [
"Panels",
"Primer walking",
"DNA-Seq",
"High-throughput sequencing",
"Chromosome walking",
"Next generation sequencing",
"NGS data analysis",
"Next gen sequencing",
"High throughput sequencing",
"Targeted next-generation sequencing panels",
"NGS",
"Sanger sequencing",
"Clone verification",
"DNase-Seq"
],
"description": "The determination of complete (typically nucleotide) sequences, including those of genomes (full genome sequencing, de novo sequencing and resequencing), amplicons and transcriptomes."
},
{
"id": 96,
"uri": "http://edamontology.org/topic_0634",
"label": "Pathology",
"synonyms": [
"Pathology",
"Disease"
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"description": "Diseases, including diseases in general and the genes, gene variations and proteins involved in one or more specific diseases."
},
{
"id": 22,
"uri": "http://edamontology.org/topic_0196",
"label": "Sequence assembly",
"synonyms": [
"Assembly"
],
"description": "The assembly of fragments of a DNA sequence to reconstruct the original sequence."
},
{
"id": 61,
"uri": "http://edamontology.org/topic_3063",
"label": "Medical informatics",
"synonyms": [
"Biomedical informatics",
"Health and disease",
"Clinical informatics",
"Healthcare informatics",
"Health informatics"
],
"description": "The application of information technology to health, disease and biomedicine."
},
{
"id": 99,
"uri": "http://edamontology.org/topic_0736",
"label": "Protein folds and structural domains",
"synonyms": [
"Protein domains",
"Protein membrane regions",
"Protein folds",
"Protein transmembrane regions",
"Protein topological domains",
"Protein structural domains",
"Intramembrane regions",
"Transmembrane regions"
],
"description": "Protein tertiary structural domains and folds in a protein or polypeptide chain."
},
{
"id": 62,
"uri": "http://edamontology.org/topic_0625",
"label": "Genotype and phenotype",
"synonyms": [
"Phenotype",
"Genotyping",
"Genotype-phenotype analysis",
"Phenotyping",
"Genotype",
"Genotype and phenotype resources",
"Genotype-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."
},
{
"id": 113,
"uri": "http://edamontology.org/topic_2814",
"label": "Protein structure analysis",
"synonyms": [
"Protein tertiary structure",
"Protein structure"
],
"description": "Protein secondary or tertiary structural data and/or associated annotation."
},
{
"id": 104,
"uri": "http://edamontology.org/topic_0082",
"label": "Structure prediction",
"synonyms": [
"Nucleic acid design",
"Nucleic acid folding",
"RNA structure prediction",
"Protein structure prediction",
"Nucleic acid structure prediction",
"DNA structure prediction",
"Protein fold recognition"
],
"description": "The prediction of molecular structure, including the prediction, modelling, recognition or design of protein secondary or tertiary structure or other structural features, and the folding of nucleic acid molecules and the prediction or design of nucleic acid (typically RNA) sequences with specific conformations."
},
{
"id": 60,
"uri": "http://edamontology.org/topic_3325",
"label": "Rare diseases",
"synonyms": [
"Rare_disease"
],
"description": "The study of rare diseases."
},
{
"id": 74,
"uri": "http://edamontology.org/topic_0078",
"label": "Proteins",
"synonyms": [
"Protein informatics",
"Protein bioinformatics",
"Protein databases"
],
"description": "Archival, processing and analysis of protein data, typically molecular sequence and structural data."
},
{
"id": 90,
"uri": "http://edamontology.org/topic_0781",
"label": "Virology",
"synonyms": null,
"description": "Study of viruses, e.g. sequence and structural data, interactions of viral proteins, or a viral genome including molecular sequences, genes and annotation."
},
{
"id": 26,
"uri": "http://edamontology.org/topic_3512",
"label": "Gene transcripts",
"synonyms": [
"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"
],
"description": "Transcription of DNA into RNA and features of a messenger RNA (mRNA) molecules including precursor RNA, primary (unprocessed) transcript and fully processed molecules."
},
{
"id": 9,
"uri": "http://edamontology.org/topic_0637",
"label": "Taxonomy",
"synonyms": null,
"description": "Organism classification, identification and naming."
},
{
"id": 91,
"uri": "http://edamontology.org/topic_3324",
"label": "Infectious disease",
"synonyms": [
"Transmissable disease",
"Communicable disease"
],
"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)."
},
{
"id": 88,
"uri": "http://edamontology.org/topic_0091",
"label": "Bioinformatics",
"synonyms": null,
"description": "The archival, curation, processing and analysis of complex biological data."
},
{
"id": 55,
"uri": "http://edamontology.org/topic_0089",
"label": "Ontology and terminology",
"synonyms": [
"Upper ontology",
"Terminology",
"Ontology",
"Ontologies",
"Ontology relations",
"Applied ontology"
],
"description": "The conceptualisation, categorisation and nomenclature (naming) of entities or phenomena within biology or bioinformatics. This includes formal ontologies, controlled vocabularies, structured glossary, symbols and terminology or other related resource."
},
{
"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"
],
"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": 86,
"uri": "http://edamontology.org/topic_0780",
"label": "Plant biology",
"synonyms": [
"Plant",
"Plant physiology",
"Plant anatomy",
"Plant ecology",
"Plant genetics",
"Botany",
"Plant science",
"Plants",
"Plant cell biology"
],
"description": "Plants, e.g. information on a specific plant genome including molecular sequences, genes and annotation."
},
{
"id": 32,
"uri": "http://edamontology.org/topic_0593",
"label": "NMR",
"synonyms": [
"Nuclear Overhauser Effect Spectroscopy",
"Rotational Frame Nuclear Overhauser Effect Spectroscopy",
"ROESY",
"Nuclear magnetic resonance spectroscopy",
"NOESY",
"NMR spectroscopy",
"Heteronuclear Overhauser Effect Spectroscopy",
"HOESY"
],
"description": "An analytical technique that exploits the magenetic properties of certain atomic nuclei to provide information on the structure, dynamics, reaction state and chemical environment of molecules."
}
]
}