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 #88 of 133: GE_case703
Locus (Inheritance): FXN (AR)
Sex: male
PCR_verdict: double-expansion
EH_verdict: double-expansion
MostCommonAnalystResponse: double-expansion
NumAnalystsMatchedPcr: 11
Premutation_[>]: 44
Pathogenic_[≥]: 66
PCR_short: expanded
PCR_long: expanded
EH_short: 79
EH_short_CI: 50-101
EH_long: 108
EH_long_CI: 63-150
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case703/GE_case703.svg