Repeat Expansion Variant Table
Repeat expansion analysis variant table contains the following information:
- Position: chromosome and position of the repeat expansion.
- Display repeat unit: display repeat unit familiar to the clinician.
- Repeat unit: repeat unit in the reference orientation.
- Pathogenicity: repeat expansions can be classified as:
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- Pathogenic: the number of repeats detected in the sample is equal to or greater than the minimum number of pathogenic repeats.
- Uncertain Significance: the number of repeats detected in the sample is greater than the maximum normal number of repeats but less than the minimum number of pathogenic repeats.
- Benign: the number of repeats detected in the sample is smaller than or equal to the normal number of repeats.
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- Genes: in which gene the repeat expansion has been found.
- Sample repeats: number of repeats observed in the allele.
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- MIN pathogenic repeats: minimum number of repeats needed to consider the variant pathogenic.
- Normal MAX repeats: maximum number of repeats allowed to call the variant as normal.
- Ref. genome repeats: number of repeats in the reference genome.
- Zygosity
- Filters: VCF filters.
Repeat expansion cards:
- Variant: general variant information and region browser.
- Gene: it contains the same gene cards as the ones displayed under the gene level of the main analysis (small variant table).