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This example is currently in draft.

This example shows findings from an assessment of a genomic rearrangement with the purpose of determining the characteristics of a fusion event between the BRD4 and MYO10 genes. The identifier for the genome reference used to generate the reported result is shown in GFGENREF. 

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? 

Row 1:Shows the predicted variant impact on expression of the BRD4 and MYO10 genes caused by the genomic rearrangement.
Row 2:Shows the first gene, BRD4, involved in the fusion event. The designation (name or number) of the chromosome or contig on which the variant appears is shown in GFCHROM. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC.
Row 3:Shows the second gene, MYO10, involved in the fusion event. The designation (name or number) of the chromosome or contig on which the variant appears is shown in GFCHROM. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC.
Row 4:Shows the description of the genomic rearrangement's disruption of the BRD4 and MYO10 genes .
Row 5:Shows the effect of the genomic rearrangement on the reading frame of the BRD4 and MYO10 fusion gene products.
Row 6:Shows the read depth, the total number of times the locus of the fusion event was sequenced.

gf.xpt

gf.xpt

RowSTUDYIDDOMAINUSUBJIDGFSEQGFGRPIDGFREFIDGFTESTCDGFTESTGFTSTDTLGFORRESGFORRESUGFSTRESCGFSTRESNGFSTRESUGFGENREFGFCHROMGFSYMGFSYMTYPGFGENLOCGFXFNGFNAMGFSPECGFMETHODVISITNUMVISITVISITDYGFDTCGFDY
1GR123GF10000111TRF001338(TBD)Sequence RearrangementVARIANT IMPACT CLASSIFICATIONlikely
likely

GRCh37.75



/compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xmlACME XYZDNATARGETED GENOME SEQUENCING1SCREENING12022-01-252
2GR123GF10000121TRF001338(TBD)Sequence Rearrangement"REARRANGEMENT PARTNER 1"BRD4
BRD4

GRCh37.7519BRD4GENE WITH PROTEIN PRODUCT15383893-15384049/compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xmlACME XYZDNATARGETED GENOME SEQUENCING1SCREENING12022-01-252
3GR123GF10000131TRF001338(TBD)Sequence Rearrangement"REARRANGEMENT PARTNER 2"MYO10
MYO10

GRCh37.755MYO10GENE WITH PROTEIN PRODUCT16724239-16724557/compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xmlACME XYZDNATARGETED GENOME SEQUENCING1SCREENING12022-01-252
4GR123GF10000141TRF001338(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.xmlACME XYZDNATARGETED GENOME SEQUENCING1SCREENING12022-01-252
5GR123GF10000151TRF001338(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.xmlACME XYZDNATARGETED GENOME SEQUENCING1SCREENING12022-01-252
6GR123GF10000161TRF001338(TBD)Sequence RearrangementREAD DEPTH45
4545
GRCh37.75



/compbio/analysis/120718_SN855_0084_AD13D5ACXX_LCNL-361/sampleAnalysis/sample18.TRF001338.01/TRF001338.01.vars.final.xmlACME XYZDNATARGETED GENOME SEQUENCING1SCREENING12022-01-252
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