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"id": 61,
"uri": "http://edamontology.org/topic_3063",
"label": "Medical informatics",
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"Clinical informatics",
"Healthcare informatics",
"Health informatics"
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"id": 96,
"uri": "http://edamontology.org/topic_0634",
"label": "Pathology",
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"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."
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{
"id": 22,
"uri": "http://edamontology.org/topic_0196",
"label": "Sequence assembly",
"synonyms": [
"Assembly"
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"description": "The assembly of fragments of a DNA sequence to reconstruct the original sequence."
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{
"id": 23,
"uri": "http://edamontology.org/topic_3168",
"label": "Sequencing",
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"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"
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"description": "The determination of complete (typically nucleotide) sequences, including those of genomes (full genome sequencing, de novo sequencing and resequencing), amplicons and transcriptomes."
},
{
"id": 62,
"uri": "http://edamontology.org/topic_0625",
"label": "Genotype and phenotype",
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"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": 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": 60,
"uri": "http://edamontology.org/topic_3325",
"label": "Rare diseases",
"synonyms": [
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"description": "The study of rare diseases."
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"id": 26,
"uri": "http://edamontology.org/topic_3512",
"label": "Gene transcripts",
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"Introns",
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"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."
},
{
"id": 93,
"uri": "http://edamontology.org/topic_0199",
"label": "Genetic variation",
"synonyms": [
"DNA variation",
"Somatic mutations",
"Genomic variation",
"Mutation",
"Polymorphism"
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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."
},
{
"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": 9,
"uri": "http://edamontology.org/topic_0637",
"label": "Taxonomy",
"synonyms": null,
"description": "Organism classification, identification and naming."
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"id": 63,
"uri": "http://edamontology.org/topic_3053",
"label": "Genetics",
"synonyms": [
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"Heredity"
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"description": "The study of genes, genetic variation and heredity in living organisms."
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{
"id": 74,
"uri": "http://edamontology.org/topic_0078",
"label": "Proteins",
"synonyms": [
"Protein informatics",
"Protein bioinformatics",
"Protein databases"
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"description": "Archival, processing and analysis of protein data, typically molecular sequence and structural data."
},
{
"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": 91,
"uri": "http://edamontology.org/topic_3324",
"label": "Infectious disease",
"synonyms": [
"Transmissable disease",
"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)."
},
{
"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": 87,
"uri": "http://edamontology.org/topic_3071",
"label": "Biological databases",
"synonyms": [
"Data management",
"Databases and information systems",
"Information systems"
],
"description": "The development and use of architectures, policies, practices and procedures for management of data."
},
{
"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."
},
{
"id": 58,
"uri": "http://edamontology.org/topic_2229",
"label": "Cell biology",
"synonyms": [
"Protein subcellular localization",
"Cellular processes",
"Cells"
],
"description": "Cells, such as key genes and proteins involved in the cell cycle."
}
]
}