Dataset: Data from: The implicitome: a resource for rationalizing gene-disease associations

Full identifier: https://w3id.org/np/RApNI026tOhVeSliPvddAxqblxM235VVQ5N6bvlzASNcE

 Dataset: Data from: The implicitome: a resource for rationalizing gene-disease associations Dataset ▼ comment approve/disapprove edit as derived nanopublication create new with same template

https://doi.org/10.5061/dryad.gn219 doi:10.5061/dryad.gn219 http://www.w3.org/1999/02/22-rdf-syntax-ns#type is a http://purl.org/dc/dcmitype/Dataset dataset .

https://doi.org/10.5061/dryad.gn219 doi:10.5061/dryad.gn219 http://purl.org/dc/terms/title has the title (this is a literal) "Data from: The implicitome: a resource for rationalizing gene-disease associations" .

https://doi.org/10.5061/dryad.gn219 doi:10.5061/dryad.gn219 http://purl.org/dc/terms/description has the description (this is a literal) "High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of potential gene-disease associations) and the accelerating rate of data production necessitate computational approaches to prioritize and rationalize potential gene-disease relations. Here, we use concept profile technology to expose from the biomedical literature both explicitly stated gene-disease relations (the explicitome) and a much larger set of implied gene-disease associations (the implicitome). Implicit relations are largely unknown to, or are even unintended by the original authors, but they vastly extend the reach of existing biomedical knowledge for identification and interpretation of gene-disease associations. The implicitome can be used in conjunction with experimental data resources to rationalize both known and novel associations. We demonstrate the usefulness of the implicitome by rationalizing known and novel gene-disease associations, including those from GWAS. To facilitate the re-use of implicit gene-disease associations, we publish our data in compliance with FAIR Data Publishing recommendations [https://www.force11.org/group/fairgroup] using nanopublications. An online tool (http://knowledge.bio) is available to explore established and potential gene-disease associations in the context of other biomedical relations." .

https://doi.org/10.5061/dryad.gn219 doi:10.5061/dryad.gn219 http://purl.org/dc/terms/publisher is published by https://ror.org/00x6h5n95 00x6h5n95 .

This is the identifier for the assertion of this nanopublication. https://w3id.org/np/RApNI026tO...#assertion The assertion above http://www.w3.org/ns/prov#wasAttributedTo is attributed to https://orcid.org/0000-0002-4182-7560 me (Kristina Hettne) .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication http://purl.org/dc/terms/creator is created by https://orcid.org/0000-0002-4182-7560 me (Kristina Hettne) .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication http://purl.org/dc/terms/license is published under the license https://creativecommons.org/licenses/by/4.0/ Attribution 4.0 International (CC BY 4.0) .

https://orcid.org/0000-0002-4182-7560 Kristina Hettne http://xmlns.com/foaf/0.1/name has the name (this is a literal) "Kristina Hettne" .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication http://www.w3.org/2000/01/rdf-schema#label has the label (this is a literal) "Dataset: Data from: The implicitome: a resource for rationalizing gene-disease associations" .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication http://purl.org/nanopub/x/hasNanopubType has the type http://purl.org/dc/dcmitype/Dataset Dataset .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication date and time when the nanopublication was created http://purl.org/dc/terms/created was created on (this is a literal) "2024-04-11T15:15:27.244Z" (xsd:dateTime) .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication links to the assertion template that was used to create this nanopublication https://w3id.org/np/o/ntemplate/wasCreatedFromTemplate was created from the assertion template http://purl.org/np/RAdvwtp0Lf... RAdvwtp0Lf .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication links to the provenance template that was used to create this nanopublication https://w3id.org/np/o/ntemplate/wasCreatedFromProvenanceTemplate was created from the provenance template http://purl.org/np/RANwQa4ICW... RANwQa4ICW .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication links to the publication info template that was used to create this nanopublication https://w3id.org/np/o/ntemplate/wasCreatedFromPubinfoTemplate was created from the publication info template http://purl.org/np/RAA2MfqdBC... RAA2MfqdBC .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication links to the publication info template that was used to create this nanopublication https://w3id.org/np/o/ntemplate/wasCreatedFromPubinfoTemplate was created from the publication info template http://purl.org/np/RAh1gm83Ji... RAh1gm83Ji .

This is a local identifier minted within the nanopublication. https://w3id.org/np/RApNI026tO...#sig sig http://purl.org/nanopub/x/hasSignatureTarget has as target This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... this nanopublication .

This is a local identifier minted within the nanopublication. https://w3id.org/np/RApNI026tO...#sig sig http://purl.org/nanopub/x/hasAlgorithm has the algorithm (this is a literal) "RSA" .

This is a local identifier minted within the nanopublication. https://w3id.org/np/RApNI026tO...#sig sig http://purl.org/nanopub/x/hasPublicKey has the public key (this is a literal) "MIGfMA0GCSqGSIb3DQEBAQUAA4GNADCBiQKBgQCNRY+XQupJzQf9CyuI3/nPbXPBvBUnmhTPmcRzkndf2UR6pp5q+T+9xpB+7/hEWDr1IG25QxhCP0ZCQfAuXYhKcXboCzuWqw7Xw5bOXk31HYiogezYFVOpophOpoivkO0zXAu5CNTdB7+va3lWHWkHAL4yxcQdEzN0j/0SJrKgkwIDAQAB" .

This is a local identifier minted within the nanopublication. https://w3id.org/np/RApNI026tO...#sig sig http://purl.org/nanopub/x/hasSignature has the signature (this is a literal) "ewzSlwRAGqYuPwylyI7n5dTrSZC+zskiKCWr/s/l9N1ulsakTGbkUJFYOLwpUdr6bofCnzLeV23tTiavqhWjaQYUyuXI3iY/ndzTZ838hr9gsFLD85Y05czq4AXPuGW19D51cMk0+LVwpTqmh0Docfsly6EYJftFJGrTzb3JUWo=" .

This is a local identifier minted within the nanopublication. https://w3id.org/np/RApNI026tO...#sig sig http://purl.org/nanopub/x/signedBy is signed by https://orcid.org/0000-0002-4182-7560 Kristina Hettne .

This is the identifier for this whole nanopublication. https://w3id.org/np/RApNI026tO... This nanopublication http://purl.org/nanopub/x/wasCreatedAt was created at https://nanodash.knowledgepixels.com/ nanodash.knowledgepixels.com .

Kristina Hettne, 11 Apr 2024, 15:15:27 UTC

References