Skip to main content

Table 2 WINGS datasets for our clinical omics use-case

From: Use of semantic workflows to enhance transparency and reproducibility in clinical omics

Dataset

Description

GeneTrails_Genes

List of genes on the GeneTrails Solid Tumor Panel®

COSMICSubset

GeneTrails specific subset of COSMIC

SNPSubset

GeneTrails specific subset of dbSNP

Patient_Called_DNA_Variant_File

Identified DNA variants from a patient’s tumor sample

Queried_COSMIC_Result

Queried COSMIC annotation specific to a Patient_Called_DNA_Variant_File

Queried_SNP_Result

Queried dbSNP annotation specific to a Patient_Called_DNA_Variant_File

Transcript_File

Transcripts of interest from GeneTrails_Genes

Predicted_Protein_Consequence

Predicted consequence(s) specific to a Patient_Called_DNA_Variant_File

In_House_Curation_of_DNA_Variants

Manually curated information on sequence characteristics of previously identified DNA variants

Final_Annotation_of_DNA_Variants

Coalesced annotation information from the workflow specific to a Patient_Called_DNA_Variant_File