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 variants within the region of interest.
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.
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
Row
STUDYID
DOMAIN
USUBJID
SPDEVID
GFSEQ
GFREFID
GFTESTCD
GFTEST
GFTSTDTL
GFORRES
GFORRESU
GFSTRESC
GFSTRESN
GFSTRESU
GFGENREF
GFNAM
GFSPEC
GFMETHOD
GFANMETH
VISITNUM
VISIT
VISITDY
GFDTC
GFDY
1
ABC-123
GF
ABC123-45-001
1
78975864
TMB
Tumor Mutation Burden
NUMBER OF SEQUENCE VARIANTS
497
497
497
GRCh37.75
Genetics Lab Plus
DNA
WHOLE EXOME SEQUENCING
1
SCREENING
-1
2022-01-19
-1
2
ABC-123
GF
ABC123-45-001
ACME 500 GENE PANEL
2
96757855
TMB
Tumor Mutation Burden
NORMALIZED NUMBER OF SEQUENCE VARIANTS
8.83
/MBP
8.83
8.83
/MBP
GRCh37.75
ACME Genetics Inc.
ctDNA
NEXT GENERATION TARGETED SEQUENCING
UNIFORM TMB CALCULATION METHOD MERINO ET AL 2020 FORMULA