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 #80 of 133: GE_case631
Locus (Inheritance): FMR1 (XR)
Sex: female
PCR_verdict: normal
EH_verdict: normal
MostCommonAnalystResponse: normal
NumAnalystsMatchedPcr: 12
Premutation_[>]: 55
Pathogenic_[≥]: 200
PCR_short: 45
PCR_long: 30
EH_short: 30
EH_short_CI: 30-30
EH_long: 53
EH_long_CI: 50-56
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case631/GE_case631.svg