Ontology type: schema:ScholarlyArticle
2019-12
AUTHORSSahar V. Mozaffari, Jeanne M. DeCara, Sanjiv J. Shah, Carlo Sidore, Edoardo Fiorillo, Francesco Cucca, Roberto M. Lang, Dan L. Nicolae, Carole Ober
ABSTRACTThe impact of the parental origin of associated alleles in GWAS has been largely ignored. Yet sequence variants could affect traits differently depending on whether they are inherited from the mother or the father, as in imprinted regions, where identical inherited DNA sequences can have different effects based on the parental origin. To explore parent-of-origin effects (POEs), we studied 21 quantitative phenotypes in a large Hutterite pedigree to identify variants with single parent (maternal-only or paternal-only) effects, and then variants with opposite parental effects. Here we show that POEs, which can be opposite in direction, are relatively common in humans, have potentially important clinical effects, and will be missed in traditional GWAS. We identified POEs with 11 phenotypes, most of which are risk factors for cardiovascular disease. Many of the loci identified are characteristic of imprinted regions and are associated with the expression of nearby genes. More... »
PAGES28
http://scigraph.springernature.com/pub.10.1038/s42003-018-0267-4
DOIhttp://dx.doi.org/10.1038/s42003-018-0267-4
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30675526
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],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T08:55",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000325_0000000325/records_100779_00000000.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s42003-018-0267-4"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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.10.1038/s42003-018-0267-4'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s42003-018-0267-4'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s42003-018-0267-4'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s42003-018-0267-4'
This table displays all metadata directly associated to this object as RDF triples.
305 TRIPLES
21 PREDICATES
77 URIs
21 LITERALS
9 BLANK NODES