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This example
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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.
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| Row 1: | Shows the number of sequence |
variants 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. |
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| 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 | | 1 | SCREENING | -1 | 2022-01-19 | -1 | | 3 | ABC-123 | GF | ABC123-45-001 | ACME 500 GENE PANEL | 3 | 96757855 | TMB | Tumor Mutation Burden | VARIANT SEQUENCE BURDEN INTERPRETATION |
intermediateintermediate
| INTERMEDIATE |
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| GRCh37.75 | ACME Genetics Inc. | ctDNA | NEXT GENERATION TARGETED SEQUENCING | 1 | SCREENING | -1 | 2022-01-19 | -1 |
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