Phenotype-driven variant prioritization for whole-exome and whole-genome sequencing data; widely used implementation of the phenotype-aware variant ranking approach.
Connections
from project borg:fromProject
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JSON-LD (this resource)
{
"@context": {
"schema": "https://schema.org/",
"foaf": "http://xmlns.com/foaf/0.1/",
"prov": "http://www.w3.org/ns/prov#",
"dct": "http://purl.org/dc/terms/",
"borg": "https://borg.kaust.edu.sa/kg/ns/",
"borg-id": "https://borg.kaust.edu.sa/kg/",
"owl": "http://www.w3.org/2002/07/owl#"
},
"@id": "https://leechuck.de/kg-browser/id/software/phenomenet-vp",
"@type": "schema:SoftwareApplication",
"owl:sameAs": {
"@id": "https://borg.kaust.edu.sa/kg/software/phenomenet-vp"
},
"schema:name": "PhenomeNET-VP",
"schema:description": "Phenotype-driven variant prioritization for whole-exome and whole-genome sequencing data; widely used implementation of the phenotype-aware variant ranking approach.",
"schema:codeRepository": "https://github.com/bio-ontology-research-group/phenomenet-vp",
"borg:fromProject": [
{
"@id": "https://leechuck.de/kg-browser/id/project/crg-complex-variant-prioritization"
},
{
"@id": "https://leechuck.de/kg-browser/id/project/kacst-mrsa"
}
]
}
Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.