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"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": 14,
"uri": "http://edamontology.org/topic_2269",
"label": "Statistics and probability",
"synonyms": [
"Biostatistics",
"Multivariate statistics",
"Bayesian methods",
"Gaussian processes",
"Probability",
"Markov processes",
"Probabilistic graphical model",
"Inferential statistics",
"Descriptive statistics",
"Statistics"
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"description": "The application of statistical methods to biological problems."
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{
"id": 73,
"uri": "http://edamontology.org/topic_0204",
"label": "Gene regulation",
"synonyms": [
"Regulatory genomics"
],
"description": "The regulation of gene expression."
},
{
"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"
],
"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."
},
{
"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": 38,
"uri": "http://edamontology.org/topic_0080",
"label": "Sequence analysis",
"synonyms": [
"Sequences",
"Biological sequences",
"Sequence databases"
],
"description": "The archival, processing and analysis of molecular sequences (monomer composition of polymers) including molecular sequence data resources, sequence sites, alignments, motifs and profiles."
},
{
"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": 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": 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": 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": 60,
"uri": "http://edamontology.org/topic_3325",
"label": "Rare diseases",
"synonyms": [
"Rare_disease"
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"description": "The study of rare diseases."
},
{
"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": 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."
},
{
"id": 7,
"uri": "http://edamontology.org/topic_3489",
"label": "Database management",
"synonyms": [
"Content management",
"Document, record and content management",
"Record management",
"Data maintenance",
"File management",
"Database administration",
"Document management"
],
"description": "The general handling of data stored in digital archives such as databanks, databases proper, web portals and other data resources."
},
{
"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": 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": 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": 120,
"uri": "http://edamontology.org/topic_2840",
"label": "Toxicology",
"synonyms": [
"Toxicoinformatics",
"Computational toxicology"
],
"description": "Toxins and the adverse effects of these chemical substances on living organisms."
},
{
"id": 95,
"uri": "http://edamontology.org/topic_3574",
"label": "Human genetics",
"synonyms": null,
"description": "The study of inheritance in human beings."
},
{
"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."
}
]
}