NOTE: This dataset contains short tandem repeat (STR) calls from 133 individuals at 14 known pathogenic loci described in [
Dolzhenko 2021].
It includes
ExpansionHunter genotypes,
REViewer read visualizations, and PCR truth data.
One way it can be useful is for learning REViewer image features that differ between over-estimated, under-estimated, and accurate ExpansionHunter genotypes.
This web page was generated using
FlipBook - a tool for manually reviewing batches of images.
page #31 of 133: GE_case336
Locus (Inheritance): ATXN3 (AD)
Sex: male
PCR_verdict: full-expansion
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 0
Premutation_[>]: 43
Pathogenic_[≥]: 60
PCR_short: 27
PCR_long: 61
EH_short: 25
EH_short_CI: 25-25
EH_long: 58
EH_long_CI: 50-64
EH_matched_PCR: no
MostCommonAnalystResponse_matched_PCR: no
GE_case336/GE_case336.svg