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This example is currently in draft.

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. 

Row 1:Shows the number of sequence variants within the region of interest.
Row 2:Shows the normalized number of sequence 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.
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.

gf.xpt

gf.xpt

RowSTUDYIDDOMAINUSUBJIDSPDEVIDGFSEQGFREFIDGFTESTCDGFTESTGFTSTDTLGFORRESGFORRESUGFSTRESCGFSTRESNGFSTRESUGFGENREFGFNAMGFSPECGFMETHODGFANMETHVISITNUMVISITVISITDYGFDTCGFDY
1ABC-123GFABC123-45-001
178975864TMBTumor Mutation BurdenNUMBER OF SEQUENCE VARIANTS497
497497
GRCh37.75Genetics Lab PlusDNAWHOLE EXOME SEQUENCING
1SCREENING-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 INTERPRETATIONintermediate
intermediate

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