This example shows findings from an assessment of a sequence 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.
The row 6 description indicates that the read depth is for the number of times the "locus" of the fusion event was sequenced.
How can it be known from the SDTM modeling that this read depth is for "the locus" of the fusion? Can this be modeled somehow - so that distinctions between the precise loci versus a range can be distinguished?
Row 1:
Shows the predicted impact on expression of the BRD4 and MYO10 genes caused by sequence 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 characterization or classification of the structural changes to the genes as a consequence of the sequence rearrangement BRD4 and MYO10 genes.
Row 5:
Shows the predicted effect of the sequence rearrangement on the original reading frames of the BRD4 and MYO10 genes.
Row 6:
Shows the read depth, the total number of times thelocus of the fusion event was sequenced.