{"data":{"id":"10.17608/k6.auckland.7295843.v2","type":"dois","attributes":{"doi":"10.17608/k6.auckland.7295843.v2","prefix":"10.17608","suffix":"k6.auckland.7295843.v2","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Fadason, Tayaza","nameType":"Personal","givenName":"Tayaza","familyName":"Fadason","affiliation":[],"nameIdentifiers":[{"schemeUri":"https://orcid.org","nameIdentifier":"https://orcid.org/0000-0002-1170-7883","nameIdentifierScheme":"ORCID"}]},{"name":"Schierding, William","nameType":"Personal","givenName":"William","familyName":"Schierding","affiliation":[],"nameIdentifiers":[]},{"name":"Lumley, Thomas","nameType":"Personal","givenName":"Thomas","familyName":"Lumley","affiliation":[],"nameIdentifiers":[]},{"name":"O'Sullivan, Justin","nameType":"Personal","givenName":"Justin","familyName":"O'Sullivan","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"eGenes in mendelian disorders"}],"publisher":"The University of Auckland","container":{},"publicationYear":2018,"subjects":[{"subject":"60412 Quantitative Genetics (incl. Disease and Trait Mapping Genetics)","subjectScheme":"FOR"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Biological sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"110311 Medical Genetics (excl. Cancer Genetics)","subjectScheme":"FOR"},{"subject":"FOS: Basic medicine","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Basic medicine","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Genetics"}],"contributors":[],"dates":[{"date":"2018-11-07","dateType":"Created"},{"date":"2018-11-07","dateType":"Updated"},{"date":"2018","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsIdenticalTo","relatedIdentifier":"10.17608/k6.auckland.7295843","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["459093 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"Chromatin interactions (using Hi-C) and functional (using eQTL) data were used to identify long-range regulatory associations involving \u0026gt;20,000 GWAS variants and their target genes (i.e. eGenes). Analysis of the OMIM data shows that eGenes, which are also involved in rare Mendelian disorders are spatially associated with eQTLs marked by common variants. These eGenes are given, together with the phenotypes they are associated with.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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","url":"https://auckland.figshare.com/articles/Supplementary_Data_5_eGenes_in_mendelian_disorders/7295843/2","contentUrl":null,"metadataVersion":2,"schemaVersion":"http://datacite.org/schema/kernel-4","source":"mds","isActive":true,"state":"findable","reason":null,"viewCount":0,"viewsOverTime":[],"downloadCount":0,"downloadsOverTime":[],"referenceCount":0,"citationCount":0,"citationsOverTime":[],"partCount":0,"partOfCount":0,"versionCount":0,"versionOfCount":0,"created":"2018-11-07T13:50:16.000Z","registered":"2018-11-07T13:50:16.000Z","published":"2018","updated":"2020-08-28T04:28:35.000Z"},"relationships":{"client":{"data":{"id":"nzau.data","type":"clients"}},"provider":{"data":{"id":"nzau","type":"providers"}},"media":{"data":{"id":"10.17608/k6.auckland.7295843.v2","type":"media"}},"references":{"data":[]},"citations":{"data":[]},"parts":{"data":[]},"partOf":{"data":[]},"versions":{"data":[]},"versionOf":{"data":[]}}}}