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 #22 of 133: GE_case247
Locus (Inheritance): ATXN2 (AD)
Sex: female
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: 115
EH_long_CI: 84-146
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case247/GE_case247.svg