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 #83 of 133: GE_case622
Locus (Inheritance): FMR1 (XR)
Sex: female
PCR_verdict: intermediate
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 11
Premutation_[>]: 55
Pathogenic_[≥]: 200
PCR_short: 30
PCR_long: 59
EH_short: 30
EH_short_CI: 30-30
EH_long: 57
EH_long_CI: 50-65
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case622/GE_case622.svg