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 #21 of 133: GE_case193
Locus (Inheritance): ATXN1 (AD)
Sex: female
PCR_verdict: full-expansion
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 2
Premutation_[>]: 39
Pathogenic_[≥]: 44
PCR_short: 26
PCR_long: 44
EH_short: 27
EH_short_CI: 27-27
EH_long: 40
EH_long_CI: 27-50
EH_matched_PCR: no
MostCommonAnalystResponse_matched_PCR: no
GE_case193/GE_case193.svg