Genetic association study


Ontology type: npg:Subject  | skos:Concept     


Concept Info

NAME

Genetic association study

DESCRIPTION

A genetic association study aims to test whether a given sequence, such as a region of a chromosome, a haplotype, a gene, or an allele, has involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. This usually involves comparing genotypes from two groups of individuals (often diseased subjects and healthy controls).

Broader Concepts

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-association-study", 
    "rdfs:label": "Genetic association study", 
    "sdDataset": "onto_subjects", 
    "skos:altLabel": [
      {
        "@language": "en", 
        "@value": "Genotype-Phenotype Correlations"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype-Phenotype Association"
      }, 
      {
        "@language": "en", 
        "@value": "Candidate Gene Analyses"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype-Phenotype Correlation"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype Phenotype Correlations"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype-Phenotype Associations"
      }, 
      {
        "@language": "en", 
        "@value": "Candidate Gene Association Study"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype Phenotype Associations"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype Phenotype Correlation"
      }, 
      {
        "@language": "en", 
        "@value": "Candidate Gene Analysis"
      }, 
      {
        "@language": "en", 
        "@value": "Gene Discovery"
      }, 
      {
        "@language": "en", 
        "@value": "Genetic Association Studies"
      }, 
      {
        "@language": "en", 
        "@value": "Candidate Gene Association Studies"
      }, 
      {
        "@language": "en", 
        "@value": "Candidate Gene Identification"
      }, 
      {
        "@language": "en", 
        "@value": "Genotype Phenotype Association"
      }
    ], 
    "skos:broader": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetics"
      }
    ], 
    "skos:definition": [
      {
        "@language": "en", 
        "@value": "A genetic association study aims to test whether a given sequence, such as a region of a chromosome, a haplotype, a gene, or an allele, has involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. This usually involves comparing genotypes from two groups of individuals (often diseased subjects and healthy controls)."
      }
    ], 
    "skos:inScheme": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/"
      }
    ], 
    "skos:narrower": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genome-wide-association-studies"
      }
    ], 
    "skos:prefLabel": [
      {
        "@language": "en", 
        "@value": "Genetic association study"
      }
    ], 
    "type": [
      "http://www.w3.org/2004/02/skos/core#Concept", 
      "http://ns.nature.com/terms/Subject"
    ]
  }, 
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "id": "http://scigraph.springernature.com/ontologies/subjects/genome-wide-association-studies", 
    "rdfs:label": "Genome-wide association studies", 
    "sdDataset": "onto_subjects", 
    "skos:altLabel": [
      {
        "@language": "en", 
        "@value": "GWA Study"
      }, 
      {
        "@language": "en", 
        "@value": "Genetic Association Analyses"
      }, 
      {
        "@language": "en", 
        "@value": "Genome Wide Association Study"
      }, 
      {
        "@language": "en", 
        "@value": "Genome-Wide Association Study"
      }, 
      {
        "@language": "en", 
        "@value": "Genetic Association Analysis"
      }, 
      {
        "@language": "en", 
        "@value": "Genome Wide Association Studies"
      }, 
      {
        "@language": "en", 
        "@value": "Whole Genome Association Analysis"
      }, 
      {
        "@language": "en", 
        "@value": "Whole Genome Association Study"
      }, 
      {
        "@language": "en", 
        "@value": "Genome Wide Association Scan"
      }, 
      {
        "@language": "en", 
        "@value": "GWA Studies"
      }, 
      {
        "@language": "en", 
        "@value": "Genome Wide Association Analysis"
      }
    ], 
    "skos:broader": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-association-study"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genomic-analysis"
      }
    ], 
    "skos:definition": [
      {
        "@language": "en", 
        "@value": "Genome-wide association studies (GWASs) are unbiased genome screens of unrelated individuals and appropriately matched controls or parent-affected child trios to establish whether any genetic variant is associated with a trait. These studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and major diseases."
      }
    ], 
    "skos:inScheme": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/"
      }
    ], 
    "skos:prefLabel": [
      {
        "@language": "en", 
        "@value": "Genome-wide association studies"
      }
    ], 
    "type": [
      "http://www.w3.org/2004/02/skos/core#Concept", 
      "http://ns.nature.com/terms/Subject"
    ]
  }, 
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "id": "http://www.w3.org/2004/02/skos/core#Concept", 
    "rdfs:subClassOf": [
      {
        "id": "http://www.w3.org/2004/02/skos/core#Concept"
      }, 
      {
        "id": "http://www.w3.org/2000/01/rdf-schema#Resource"
      }
    ], 
    "sdDataset": "for_codes", 
    "type": [
      "http://www.w3.org/2000/01/rdf-schema#Resource", 
      "http://www.w3.org/2000/01/rdf-schema#Class"
    ]
  }, 
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "id": "http://scigraph.springernature.com/ontologies/subjects/genetics", 
    "rdfs:label": "Genetics", 
    "sdDataset": "onto_subjects", 
    "skos:broader": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/biological-sciences"
      }
    ], 
    "skos:definition": [
      {
        "@language": "en", 
        "@value": "Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behaviour in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution, and variation and change in populations."
      }
    ], 
    "skos:inScheme": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/"
      }
    ], 
    "skos:narrower": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/animal-breeding"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/medical-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/consanguinity"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/microbial-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/population-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genome"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/behavioural-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/plant-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genomics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/polyploidy"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-markers"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/immunogenetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/gene-expression"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/gene-regulation"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/cytogenetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/haplotypes"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/plant-breeding"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/neurodevelopmental-disorders"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/eukaryote"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/development"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/rna-splicing"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/cancer-genomics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/inbreeding"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/cancer-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-hybridization"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/mutation"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/sequencing"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/epigenetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/epigenomics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genomic-instability"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genotype"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/heritable-quantitative-trait"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/prokaryote"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/crispr-cas-systems"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/functional-genomics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/evolutionary-biology"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/clinical-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-interaction"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/quantitative-trait"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/rnai"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/agricultural-genetics"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-association-study"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/genetic-linkage-study"
      }
    ], 
    "skos:prefLabel": [
      {
        "@language": "en", 
        "@value": "Genetics"
      }
    ], 
    "type": [
      "http://www.w3.org/2004/02/skos/core#Concept", 
      "http://ns.nature.com/terms/Subject"
    ]
  }, 
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "dcterms:description": [
      {
        "@language": "en", 
        "@value": "The Nature Subjects Taxonomy is a polyhierarchical categorization of scholarly subject areas which are used for the indexing of content by Springer Nature."
      }
    ], 
    "dcterms:title": [
      {
        "@language": "en", 
        "@value": "Nature Subjects Taxonomy"
      }
    ], 
    "id": "http://scigraph.springernature.com/ontologies/subjects/", 
    "sdDataset": "onto_subjects", 
    "skos:hasTopConcept": [
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/physical-sciences"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/DEPRECATED"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/business-and-commerce"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/humanities"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/social-science"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/health-sciences"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/scientific-community-and-society"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/earth-and-environmental-sciences"
      }, 
      {
        "id": "http://scigraph.springernature.com/ontologies/subjects/biological-sciences"
      }
    ], 
    "type": [
      "http://www.w3.org/2004/02/skos/core#ConceptScheme"
    ]
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/ontologies/subjects/genetic-association-study'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/ontologies/subjects/genetic-association-study'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/ontologies/subjects/genetic-association-study'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/ontologies/subjects/genetic-association-study'


 

This table displays all metadata directly associated to this object as RDF triples.

114 TRIPLES      10 PREDICATES      26 URIs      19 LITERALS

Subject Predicate Object
1 sg:ontologies/subjects/genetic-association-study sgo:license sg:explorer/license/
2 sgo:sdDataset onto_subjects
3 rdf:type npg:Subject
4 skos:Concept
5 rdfs:label Genetic association study
6 skos:altLabel Candidate Gene Analyses
7 Candidate Gene Analysis
8 Candidate Gene Association Studies
9 Candidate Gene Association Study
10 Candidate Gene Identification
11 Gene Discovery
12 Genetic Association Studies
13 Genotype Phenotype Association
14 Genotype Phenotype Associations
15 Genotype Phenotype Correlation
16 Genotype Phenotype Correlations
17 Genotype-Phenotype Association
18 Genotype-Phenotype Associations
19 Genotype-Phenotype Correlation
20 Genotype-Phenotype Correlations
21 skos:broader sg:ontologies/subjects/genetics
22 skos:definition A genetic association study aims to test whether a given sequence, such as a region of a chromosome, a haplotype, a gene, or an allele, has involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. This usually involves comparing genotypes from two groups of individuals (often diseased subjects and healthy controls).
23 skos:inScheme sg:ontologies/subjects/
24 skos:narrower sg:ontologies/subjects/genome-wide-association-studies
25 skos:prefLabel Genetic association study
26 sg:ontologies/subjects/ dcterms:description The Nature Subjects Taxonomy is a polyhierarchical categorization of scholarly subject areas which are used for the indexing of content by Springer Nature.
27 dcterms:title Nature Subjects Taxonomy
28 sgo:sdDataset onto_subjects
29 rdf:type skos:ConceptScheme
30 skos:hasTopConcept sg:ontologies/subjects/DEPRECATED
31 sg:ontologies/subjects/biological-sciences
32 sg:ontologies/subjects/business-and-commerce
33 sg:ontologies/subjects/earth-and-environmental-sciences
34 sg:ontologies/subjects/health-sciences
35 sg:ontologies/subjects/humanities
36 sg:ontologies/subjects/physical-sciences
37 sg:ontologies/subjects/scientific-community-and-society
38 sg:ontologies/subjects/social-science
39 sg:ontologies/subjects/genetics sgo:sdDataset onto_subjects
40 rdf:type npg:Subject
41 skos:Concept
42 rdfs:label Genetics
43 skos:broader sg:ontologies/subjects/biological-sciences
44 skos:definition Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behaviour in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution, and variation and change in populations.
45 skos:inScheme sg:ontologies/subjects/
46 skos:narrower sg:ontologies/subjects/agricultural-genetics
47 sg:ontologies/subjects/animal-breeding
48 sg:ontologies/subjects/behavioural-genetics
49 sg:ontologies/subjects/cancer-genetics
50 sg:ontologies/subjects/cancer-genomics
51 sg:ontologies/subjects/clinical-genetics
52 sg:ontologies/subjects/consanguinity
53 sg:ontologies/subjects/crispr-cas-systems
54 sg:ontologies/subjects/cytogenetics
55 sg:ontologies/subjects/development
56 sg:ontologies/subjects/epigenetics
57 sg:ontologies/subjects/epigenomics
58 sg:ontologies/subjects/eukaryote
59 sg:ontologies/subjects/evolutionary-biology
60 sg:ontologies/subjects/functional-genomics
61 sg:ontologies/subjects/gene-expression
62 sg:ontologies/subjects/gene-regulation
63 sg:ontologies/subjects/genetic-association-study
64 sg:ontologies/subjects/genetic-hybridization
65 sg:ontologies/subjects/genetic-interaction
66 sg:ontologies/subjects/genetic-linkage-study
67 sg:ontologies/subjects/genetic-markers
68 sg:ontologies/subjects/genome
69 sg:ontologies/subjects/genomic-instability
70 sg:ontologies/subjects/genomics
71 sg:ontologies/subjects/genotype
72 sg:ontologies/subjects/haplotypes
73 sg:ontologies/subjects/heritable-quantitative-trait
74 sg:ontologies/subjects/immunogenetics
75 sg:ontologies/subjects/inbreeding
76 sg:ontologies/subjects/medical-genetics
77 sg:ontologies/subjects/microbial-genetics
78 sg:ontologies/subjects/mutation
79 sg:ontologies/subjects/neurodevelopmental-disorders
80 sg:ontologies/subjects/plant-breeding
81 sg:ontologies/subjects/plant-genetics
82 sg:ontologies/subjects/polyploidy
83 sg:ontologies/subjects/population-genetics
84 sg:ontologies/subjects/prokaryote
85 sg:ontologies/subjects/quantitative-trait
86 sg:ontologies/subjects/rna-splicing
87 sg:ontologies/subjects/rnai
88 sg:ontologies/subjects/sequencing
89 skos:prefLabel Genetics
90 sg:ontologies/subjects/genome-wide-association-studies sgo:sdDataset onto_subjects
91 rdf:type npg:Subject
92 skos:Concept
93 rdfs:label Genome-wide association studies
94 skos:altLabel GWA Studies
95 GWA Study
96 Genetic Association Analyses
97 Genetic Association Analysis
98 Genome Wide Association Analysis
99 Genome Wide Association Scan
100 Genome Wide Association Studies
101 Genome Wide Association Study
102 Genome-Wide Association Study
103 Whole Genome Association Analysis
104 Whole Genome Association Study
105 skos:broader sg:ontologies/subjects/genetic-association-study
106 sg:ontologies/subjects/genomic-analysis
107 skos:definition Genome-wide association studies (GWASs) are unbiased genome screens of unrelated individuals and appropriately matched controls or parent-affected child trios to establish whether any genetic variant is associated with a trait. These studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and major diseases.
108 skos:inScheme sg:ontologies/subjects/
109 skos:prefLabel Genome-wide association studies
110 skos:Concept sgo:sdDataset for_codes
111 rdf:type rdfs:Class
112 rdfs:Resource
113 rdfs:subClassOf rdfs:Resource
114 skos:Concept
 




Preview window. Press ESC to close (or click here)


...