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 #18 of 133: GE_case91
Locus (Inheritance): ATXN1 (AD)
Sex: male
PCR_verdict: normal
EH_verdict: normal
MostCommonAnalystResponse: normal
NumAnalystsMatchedPcr: 12
Premutation_[>]: 39
Pathogenic_[≥]: 44
PCR_short: 29
PCR_long: 31
EH_short: 29
EH_short_CI: 29-42
EH_long: 29
EH_long_CI: 29-42
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case91/GE_case91.svg