Complex Disease Genes and Their Discovery View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2019-12-20

AUTHORS

Jeffrey C. Barrett , Mark J. Daly

ABSTRACT

The study of the genetic underpinning of heritable human diseases stretches back nearly a century. While thousands of mutations in single genes have been found that cause severe “Mendelian” disorders, attempts to find such single genes for complex diseases have been relatively unsuccessful. Instead it has become clear that complex diseases, like IBD, are affected by many (likely hundreds or even thousands) different genes as well as environmental factors. Here we describe the process by which that discovery was made, as well as the technological advances from small-scale candidate gene to genome-wide association studies. These approaches, especially when undertaken in large-scale collaborations, have unlocked thousands of complex disease genes, including 163 associated with IBD. Despite these exciting developments, the discovery of genes represents the first stage in translating that knowledge into biological understanding of disease and possible future treatments. More... »

PAGES

79-89

Book

TITLE

Molecular Genetics of Inflammatory Bowel Disease

ISBN

978-3-030-28702-3
978-3-030-28703-0

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-030-28703-0_4

DOI

http://dx.doi.org/10.1007/978-3-030-28703-0_4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1123542633


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

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", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK", 
          "id": "http://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Barrett", 
        "givenName": "Jeffrey C.", 
        "id": "sg:person.016605250747.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016605250747.79"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Simches Research Center, Massachusetts General Hospital, Boston, MA, USA", 
          "id": "http://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Simches Research Center, Massachusetts General Hospital, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Daly", 
        "givenName": "Mark J.", 
        "id": "sg:person.011517303117.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "2019-12-20", 
    "datePublishedReg": "2019-12-20", 
    "description": "The study of the genetic underpinning of heritable human diseases stretches back nearly a century. While thousands of mutations in single genes have been found that cause severe \u201cMendelian\u201d disorders, attempts to find such single genes for complex diseases have been relatively unsuccessful. Instead it has become clear that complex diseases, like IBD, are affected by many (likely hundreds or even thousands) different genes as well as environmental factors. Here we describe the process by which that discovery was made, as well as the technological advances from small-scale candidate gene to genome-wide association studies. These approaches, especially when undertaken in large-scale collaborations, have unlocked thousands of complex disease genes, including 163 associated with IBD. Despite these exciting developments, the discovery of genes represents the first stage in translating that knowledge into biological understanding of disease and possible future treatments.", 
    "editor": [
      {
        "familyName": "Hedin", 
        "givenName": "Charlotte", 
        "type": "Person"
      }, 
      {
        "familyName": "Rioux", 
        "givenName": "John D.", 
        "type": "Person"
      }, 
      {
        "familyName": "D'Amato", 
        "givenName": "Mauro", 
        "type": "Person"
      }
    ], 
    "genre": "chapter", 
    "id": "sg:pub.10.1007/978-3-030-28703-0_4", 
    "isAccessibleForFree": false, 
    "isPartOf": {
      "isbn": [
        "978-3-030-28702-3", 
        "978-3-030-28703-0"
      ], 
      "name": "Molecular Genetics of Inflammatory Bowel Disease", 
      "type": "Book"
    }, 
    "keywords": [
      "complex disease genes", 
      "single gene", 
      "disease genes", 
      "heritable human diseases", 
      "genome-wide association studies", 
      "discovery of genes", 
      "complex diseases", 
      "thousands of mutations", 
      "candidate genes", 
      "different genes", 
      "genetic underpinnings", 
      "association studies", 
      "human diseases", 
      "genes", 
      "biological understanding", 
      "environmental factors", 
      "discovery", 
      "large-scale collaboration", 
      "mutations", 
      "exciting developments", 
      "thousands", 
      "possible future treatment", 
      "technological advances", 
      "disease", 
      "future treatment", 
      "understanding", 
      "stage", 
      "IBD", 
      "advances", 
      "underpinnings", 
      "development", 
      "study", 
      "factors", 
      "process", 
      "knowledge", 
      "disorders", 
      "treatment", 
      "cause", 
      "approach", 
      "century", 
      "first stage", 
      "collaboration"
    ], 
    "name": "Complex Disease Genes and Their Discovery", 
    "pagination": "79-89", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1123542633"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/978-3-030-28703-0_4"
        ]
      }
    ], 
    "publisher": {
      "name": "Springer Nature", 
      "type": "Organisation"
    }, 
    "sameAs": [
      "https://doi.org/10.1007/978-3-030-28703-0_4", 
      "https://app.dimensions.ai/details/publication/pub.1123542633"
    ], 
    "sdDataset": "chapters", 
    "sdDatePublished": "2022-11-24T21:17", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221124/entities/gbq_results/chapter/chapter_412.jsonl", 
    "type": "Chapter", 
    "url": "https://doi.org/10.1007/978-3-030-28703-0_4"
  }
]
 

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/pub.10.1007/978-3-030-28703-0_4'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/978-3-030-28703-0_4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/978-3-030-28703-0_4'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/978-3-030-28703-0_4'


 

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

121 TRIPLES      22 PREDICATES      66 URIs      59 LITERALS      7 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/978-3-030-28703-0_4 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N02cb1987c23a4870856d7187773e04cb
4 schema:datePublished 2019-12-20
5 schema:datePublishedReg 2019-12-20
6 schema:description The study of the genetic underpinning of heritable human diseases stretches back nearly a century. While thousands of mutations in single genes have been found that cause severe “Mendelian” disorders, attempts to find such single genes for complex diseases have been relatively unsuccessful. Instead it has become clear that complex diseases, like IBD, are affected by many (likely hundreds or even thousands) different genes as well as environmental factors. Here we describe the process by which that discovery was made, as well as the technological advances from small-scale candidate gene to genome-wide association studies. These approaches, especially when undertaken in large-scale collaborations, have unlocked thousands of complex disease genes, including 163 associated with IBD. Despite these exciting developments, the discovery of genes represents the first stage in translating that knowledge into biological understanding of disease and possible future treatments.
7 schema:editor N6557005195c04398ba48727626f63a00
8 schema:genre chapter
9 schema:isAccessibleForFree false
10 schema:isPartOf N06ee76f64ab141b9affa9085ef609736
11 schema:keywords IBD
12 advances
13 approach
14 association studies
15 biological understanding
16 candidate genes
17 cause
18 century
19 collaboration
20 complex disease genes
21 complex diseases
22 development
23 different genes
24 discovery
25 discovery of genes
26 disease
27 disease genes
28 disorders
29 environmental factors
30 exciting developments
31 factors
32 first stage
33 future treatment
34 genes
35 genetic underpinnings
36 genome-wide association studies
37 heritable human diseases
38 human diseases
39 knowledge
40 large-scale collaboration
41 mutations
42 possible future treatment
43 process
44 single gene
45 stage
46 study
47 technological advances
48 thousands
49 thousands of mutations
50 treatment
51 underpinnings
52 understanding
53 schema:name Complex Disease Genes and Their Discovery
54 schema:pagination 79-89
55 schema:productId N35578361c92b40e8b027602cbaa09333
56 N528786a4c3974367952cc41157116dde
57 schema:publisher N82dd98ad11204bef8322e7bcd5e9203a
58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1123542633
59 https://doi.org/10.1007/978-3-030-28703-0_4
60 schema:sdDatePublished 2022-11-24T21:17
61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
62 schema:sdPublisher N0708af83e5cd4aab98283766362cd061
63 schema:url https://doi.org/10.1007/978-3-030-28703-0_4
64 sgo:license sg:explorer/license/
65 sgo:sdDataset chapters
66 rdf:type schema:Chapter
67 N02cb1987c23a4870856d7187773e04cb rdf:first sg:person.016605250747.79
68 rdf:rest Nbb48b1f2488a4d8ebae24bc825cd2cf3
69 N04233fa9fb6a4e1daa6cb4d564ac32a8 schema:familyName Rioux
70 schema:givenName John D.
71 rdf:type schema:Person
72 N06ee76f64ab141b9affa9085ef609736 schema:isbn 978-3-030-28702-3
73 978-3-030-28703-0
74 schema:name Molecular Genetics of Inflammatory Bowel Disease
75 rdf:type schema:Book
76 N0708af83e5cd4aab98283766362cd061 schema:name Springer Nature - SN SciGraph project
77 rdf:type schema:Organization
78 N35578361c92b40e8b027602cbaa09333 schema:name doi
79 schema:value 10.1007/978-3-030-28703-0_4
80 rdf:type schema:PropertyValue
81 N528786a4c3974367952cc41157116dde schema:name dimensions_id
82 schema:value pub.1123542633
83 rdf:type schema:PropertyValue
84 N6557005195c04398ba48727626f63a00 rdf:first Ne2fbc1e7b8f84ca9a6e3348862b8f973
85 rdf:rest Nf68d0eaba30d419dbb291cbc610fad51
86 N82dd98ad11204bef8322e7bcd5e9203a schema:name Springer Nature
87 rdf:type schema:Organisation
88 Nb6bc9899120e4d99afe58700e19e328b schema:familyName D'Amato
89 schema:givenName Mauro
90 rdf:type schema:Person
91 Nbb48b1f2488a4d8ebae24bc825cd2cf3 rdf:first sg:person.011517303117.07
92 rdf:rest rdf:nil
93 Nc9c75aa3453448f29b3b38ce56e41f5e rdf:first Nb6bc9899120e4d99afe58700e19e328b
94 rdf:rest rdf:nil
95 Ne2fbc1e7b8f84ca9a6e3348862b8f973 schema:familyName Hedin
96 schema:givenName Charlotte
97 rdf:type schema:Person
98 Nf68d0eaba30d419dbb291cbc610fad51 rdf:first N04233fa9fb6a4e1daa6cb4d564ac32a8
99 rdf:rest Nc9c75aa3453448f29b3b38ce56e41f5e
100 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
101 schema:name Biological Sciences
102 rdf:type schema:DefinedTerm
103 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
104 schema:name Genetics
105 rdf:type schema:DefinedTerm
106 sg:person.011517303117.07 schema:affiliation grid-institutes:grid.32224.35
107 schema:familyName Daly
108 schema:givenName Mark J.
109 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07
110 rdf:type schema:Person
111 sg:person.016605250747.79 schema:affiliation grid-institutes:grid.10306.34
112 schema:familyName Barrett
113 schema:givenName Jeffrey C.
114 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016605250747.79
115 rdf:type schema:Person
116 grid-institutes:grid.10306.34 schema:alternateName Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
117 schema:name Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
118 rdf:type schema:Organization
119 grid-institutes:grid.32224.35 schema:alternateName Simches Research Center, Massachusetts General Hospital, Boston, MA, USA
120 schema:name Simches Research Center, Massachusetts General Hospital, Boston, MA, USA
121 rdf:type schema:Organization
 




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


...