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 #94 of 133: GE_case717
Locus (Inheritance): HTT (AD)
Sex: male
PCR_verdict: normal
EH_verdict: normal
MostCommonAnalystResponse: normal
NumAnalystsMatchedPcr: 12
Premutation_[>]: 35
Pathogenic_[≥]: 40
PCR_short: 18
PCR_long: 27
EH_short: 18
EH_short_CI: 18-18
EH_long: 24
EH_long_CI: 18-38
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case717/GE_case717.svg