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 #34 of 133: GE_case413
Locus (Inheritance): ATXN7 (AD)
Sex: female
PCR_verdict: full-expansion
EH_verdict: full-expansion
MostCommonAnalystResponse: full-expansion
NumAnalystsMatchedPcr: 12
Premutation_[>]: 34
Pathogenic_[≥]: 36
PCR_short: 10
PCR_long: 46
EH_short: 10
EH_short_CI: 10-10
EH_long: 52
EH_long_CI: 50-54
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case413/GE_case413.svg