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 #27 of 133: GE_case248
Locus (Inheritance): ATXN2 (AD)
Sex: male
PCR_verdict: full-expansion
EH_verdict: full-expansion
MostCommonAnalystResponse: full-expansion
NumAnalystsMatchedPcr: 12
Premutation_[>]: 31
Pathogenic_[≥]: 33
PCR_short: normal
PCR_long: expanded
EH_short: 22
EH_short_CI: 22-22
EH_long: 42
EH_long_CI: 42-42
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case248/GE_case248.svg