BaseSpace Variant Interpreter
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:software
|
| gptkbp:developedBy |
gptkb:Illumina
|
| gptkbp:enables |
report generation
|
| https://www.w3.org/2000/01/rdf-schema#label |
BaseSpace Variant Interpreter
|
| gptkbp:integratesWith |
gptkb:COSMIC
gptkb:ClinVar gptkb:dbSNP gptkb:HGMD gptkb:BaseSpace_Sequence_Hub gptkb:gnomAD external databases |
| gptkbp:offers |
gptkb:mobile_application
|
| gptkbp:provides |
audit trails
data security clinical decision support user management customizable workflows cloud-based deployment gene panel support variant evidence curation variant filtering variant prioritization |
| gptkbp:purpose |
variant interpretation
|
| gptkbp:supports |
collaborative workflows
ACMG guidelines NGS data |
| gptkbp:usedFor |
clinical genomics
genetic variant annotation variant classification |
| gptkbp:website |
https://www.illumina.com/products/by-type/informatics-products/basespace-variant-interpreter.html
|
| gptkbp:bfsParent |
gptkb:BaseSpace
gptkb:Illumina_BaseSpace |
| gptkbp:bfsLayer |
7
|