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 #130 of 133: GE_case860
Locus (Inheritance): TBP (AD)
Sex: female
PCR_verdict: intermediate
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 12
Premutation_[>]: 41
Pathogenic_[≥]: 49
PCR_short: 38
PCR_long: 44
EH_short: 38
EH_short_CI: 37-37
EH_long: 43
EH_long_CI: 43-43
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case860/GE_case860.svg