Nanopublication: RApNI026tO
Full identifier: https://w3id.org/np/RApNI026tOhVeSliPvddAxqblxM235VVQ5N6bvlzASNcE
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."
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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)
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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"
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This is the identifier for this whole nanopublication.
https://w3id.org/np/RApNI026tO...
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has the type
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Dataset
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This nanopublication
date and time when the nanopublication was created
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was created on
(this is a literal)
"2024-04-11T15:15:27.244Z"
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This nanopublication
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This nanopublication
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was created from the provenance template
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RANwQa4ICW
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This nanopublication
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was created from the publication info template
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This nanopublication
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was created from the publication info template
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sig
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has as target
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this nanopublication
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sig
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sig
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has the signature
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This is a local identifier minted within the nanopublication.
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sig
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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
.
References
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