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This example is currently in draft. |
This example shows findings from an assessment of the HTT gene sequence with the purpose of determining the number of CAG repeats in subjects with Huntington's Disease. In this example, the findings are generated using two different methodologies to report CAG repeat assessment in three different formats. The arbitrary allele identifier is shown in GFCOPYID. 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. The unique identifier for the sequence used as the reference to identify the genetic variation in the result is shown in GFSEQID. The test method by which the examination was performed is shown in GFMETHOD.
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