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This example shows findings from an assessment of the number of mutations within a tumor genome with the purpose of determining likely response to a therapeutic agent and/or disease burden. In this example, findings are generated by two vendors using different methodologies and specimen types.


Dataset wrap
Namegf
Rowcaps
Row 1:

Shows the number of sequence variants within the region of interest. The vendor, methodology, and specimen type are shown in GFNAM, GFMETHOD, and GFSPEC. 

Row 2:

Shows the normalized number of sequence

variants

variants within the region of interest. The

formula applied for normalization is shown in GFANMETH. The

panel of genes used in next generation targeted sequencing is shown in SPDVID. The vendor, methodology, and specimen type are shown in GFNAM, GFMETHOD, and GFSPEC. 

Row 3:Shows the a summary of the magnitude of the variant burden within the tumor. The panel of genes used in next generation targeted sequencing is shown in SPDVID. The vendor, methodology, and specimen type are shown in GFNAM, GFMETHOD, and GFSPEC. 
Dataset2
RowSTUDYIDDOMAINUSUBJIDSPDEVIDGFSEQGFREFIDGFTESTCDGFTESTGFTSTDTLGFORRESGFORRESUGFSTRESCGFSTRESNGFSTRESUGFGENREFGFNAMGFSPECGFMETHOD
GFANMETH
VISITNUMVISITVISITDYGFDTCGFDY
1ABC-123GFABC123-45-001
178975864TMBTumor Mutation BurdenNUMBER OF SEQUENCE VARIANTS497
497497
GRCh37.75Genetics Lab PlusDNAWHOLE EXOME SEQUENCING1SCREENING-12022-01-19-1
2ABC-123GFABC123-45-001ACME 500 GENE PANEL296757855TMBTumor Mutation BurdenNORMALIZED NUMBER OF SEQUENCE VARIANTS8.83/MBP8.838.83/MBPGRCh37.75ACME Genetics Inc.ctDNANEXT GENERATION TARGETED SEQUENCING
UNIFORM TMB CALCULATION METHOD MERINO ET AL 2020 FORMULA
1SCREENING-12022-01-19-1
3ABC-123GFABC123-45-001ACME 500 GENE PANEL396757855TMBTumor Mutation BurdenVARIANT SEQUENCE BURDEN INTERPRETATION
intermediate
INTERMEDIATE
intermediate

INTERMEDIATE

GRCh37.75ACME Genetics Inc.ctDNANEXT GENERATION TARGETED SEQUENCING1SCREENING-12022-01-19-1