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This example shows findings from an assessment of ... with the purpose of determining... .
Glenn Barnes -
This example was from an oncology study. Assessment and reportable terminology (TESTCD/TEST and TSTDTL) to be finalized with Erin and team. We did not populate SYMTYP and units. Should this be double checked?
gf.xpt
Row 1: Shows the variant impact classification, a categorization of the phenotypic or clinical significance of the genomic variation, caused by the sequence rearrangement. Row 2: Shows the ... . Row 3: Shows the ... . Row 4: Shows the ... . Row 5: Shows the ... . Row 6: Shows the ... .
gf.xpt
gf.xpt
Row STUDYID DOMAIN USUBJID GFSEQ GFGRPID GFREFID GFTESTCD GFTEST GFTSTDTL GFORRES GFORRESU GFSTRESC GFSTRESN GFSTRESU GFGENREF GFCHROM GFSYM GFSYMTYP GFGENLOC GFXFN GFNAM GFSPEC GFMETHOD VISITNUM VISIT VISITDY GFDTC GFDY 1 GR123 GF 10000 11 1 TRF001338 (TBD) Sequence Rearrangement VARIANT IMPACT CLASSIFICATION likely likely GRCh37.75 /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml ACME XYZ DNA TARGETED GENOME SEQUENCING 1 SCREENING 1 2022-01-25 2 2 GR123 GF 10000 12 1 TRF001338 (TBD) Sequence Rearrangement "REARRANGEMENT PARTNER 1" BRD4 BRD4 GRCh37.75 19 BRD4 GENE WITH PROTEIN PRODUCT 15383893-15384049 /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml ACME XYZ DNA TARGETED GENOME SEQUENCING 1 SCREENING 1 2022-01-25 2 3 GR123 GF 10000 13 1 TRF001338 (TBD) Sequence Rearrangement "REARRANGEMENT PARTNER 2" MYO10 MYO10 GRCh37.75 5 MYO10 GENE WITH PROTEIN PRODUCT 16724239-16724557 /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml ACME XYZ DNA TARGETED GENOME SEQUENCING 1 SCREENING 1 2022-01-25 2 4 GR123 GF 10000 14 1 TRF001338 (TBD) Sequence Rearrangement "VARIANT DESCRIPTION" truncation truncation GRCh37.75 /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml ACME XYZ DNA TARGETED GENOME SEQUENCING 1 SCREENING 1 2022-01-25 2 5 GR123 GF 10000 15 1 TRF001338 (TBD) Sequence Rearrangement "IN FRAME" unknown unknown GRCh37.75 /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml ACME XYZ DNA TARGETED GENOME SEQUENCING 1 SCREENING 1 2022-01-25 2 6 GR123 GF 10000 16 1 TRF001338 (TBD) Sequence Rearrangement READ DEPTH 45 45 45 GRCh37.75 /compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xml ACME XYZ DNA TARGETED GENOME SEQUENCING 1 SCREENING 1 2022-01-25 2
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