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"id": 60,
"uri": "http://edamontology.org/topic_3325",
"label": "Rare diseases",
"synonyms": [
"Rare_disease"
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"description": "The study of rare diseases."
},
{
"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": 43,
"uri": "http://edamontology.org/topic_3321",
"label": "Molecular genetics",
"synonyms": null,
"description": "The structure and function of genes at a molecular level."
},
{
"id": 92,
"uri": "http://edamontology.org/topic_3320",
"label": "RNA splicing",
"synonyms": [
"Alternative splicing",
"Splice sites"
],
"description": "RNA splicing; post-transcription RNA modification involving the removal of introns and joining of exons."
},
{
"id": 16,
"uri": "http://edamontology.org/topic_3316",
"label": "Computer science",
"synonyms": [
"Cloud computing",
"High performance computing",
"High-performance computing",
"HPC"
],
"description": "The theory and practical use of computer systems."
},
{
"id": 51,
"uri": "http://edamontology.org/topic_3308",
"label": "Transcriptomics",
"synonyms": [
"Transcriptome",
"Comparative transcriptomics",
"Metatranscriptomics"
],
"description": "The analysis of transcriptomes, or a set of all the RNA molecules in a specific cell, tissue etc."
},
{
"id": 75,
"uri": "http://edamontology.org/topic_3307",
"label": "Computational biology",
"synonyms": [
"Mathematical biology",
"Biomathematics",
"Theoretical biology"
],
"description": "The development and application of theory, analytical methods, mathematical models and computational simulation of biological systems."
},
{
"id": 29,
"uri": "http://edamontology.org/topic_3306",
"label": "Biophysics",
"synonyms": [
"Medical physics"
],
"description": "The use of physics to study biological system."
},
{
"id": 83,
"uri": "http://edamontology.org/topic_3301",
"label": "Microbiology",
"synonyms": [
"Microbial physiology",
"Microbial genetics",
"Microbiological surveillance",
"Molecular microbiology",
"Medical microbiology",
"Antimicrobial stewardship",
"Microbial surveillance",
"Molecular infection biology"
],
"description": "The biology of microorganisms."
},
{
"id": 71,
"uri": "http://edamontology.org/topic_3299",
"label": "Evolutionary biology",
"synonyms": [
"Evolution"
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"description": "The evolutionary processes, from the genetic to environmental scale, that produced life in all its diversity."
},
{
"id": 48,
"uri": "http://edamontology.org/topic_3298",
"label": "Phenomics",
"synonyms": null,
"description": "Phenomes, or the study of the change in phenotype (the physical and biochemical traits of organisms) in response to genetic and environmental factors."
},
{
"id": 59,
"uri": "http://edamontology.org/topic_3293",
"label": "Phylogenetics",
"synonyms": null,
"description": "The study of evolutionary relationships amongst organisms from analysis of genetic information (typically gene or protein sequences)."
},
{
"id": 119,
"uri": "http://edamontology.org/topic_3292",
"label": "Biochemistry",
"synonyms": [
"Glycomics",
"Phytochemistry",
"Biological chemistry",
"Pathobiochemistry"
],
"description": "Chemical substances and physico-chemical processes and that occur within living organisms."
},
{
"id": 45,
"uri": "http://edamontology.org/topic_3174",
"label": "Metagenomics",
"synonyms": [
"Biome sequencing",
"Shotgun metagenomics"
],
"description": "The study of genetic material recovered from environmental samples, and associated environmental data."
},
{
"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": 13,
"uri": "http://edamontology.org/topic_3170",
"label": "RNA-Seq",
"synonyms": [
"RNA sequencing",
"RNA-Seq analysis",
"Whole transcriptome shotgun sequencing",
"WTSS",
"Small-Seq",
"Small RNA sequencing",
"Small RNA-Seq",
"miRNA-seq",
"MicroRNA sequencing",
"Transcriptome profiling"
],
"description": "A topic concerning high-throughput sequencing of cDNA to measure the RNA content (transcriptome) of a sample, for example, to investigate how different alleles of a gene are expressed, detect post-transcriptional mutations or identify gene fusions."
},
{
"id": 105,
"uri": "http://edamontology.org/topic_3169",
"label": "ChIP-seq",
"synonyms": [
"ChIP-sequencing",
"Chip sequencing",
"Chip Seq",
"ChIP-exo",
"Chip-sequencing"
],
"description": "The analysis of protein-DNA interactions where chromatin immunoprecipitation (ChIP) is used in combination with massively parallel DNA sequencing to identify the binding sites of DNA-associated proteins."
},
{
"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": 25,
"uri": "http://edamontology.org/topic_3125",
"label": "DNA binding sites",
"synonyms": [
"Matrix-attachment region",
"Ribosome binding sites",
"Scaffold-attachment region",
"Matrix/scaffold attachment region",
"Nucleosome exclusion sequences",
"Restriction sites"
],
"description": "Nucleic acids binding to some other molecule."
},
{
"id": 8,
"uri": "http://edamontology.org/topic_3077",
"label": "Data acquisition",
"synonyms": [
"Data collection"
],
"description": "The acquisition of data, typically measurements of physical systems using any type of sampling system, or by another other means."
}
]
}