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 #90 of 133:   GE_case713
Locus (Inheritance): FXN (AR)
Sex: female
PCR_verdict: double-expansion
EH_verdict: double-expansion
MostCommonAnalystResponse: double-expansion
NumAnalystsMatchedPcr: 11
Premutation_[>]: 44
Pathogenic_[≥]: 66
PCR_short: 150
PCR_long: 1000
EH_short: 90
EH_short_CI: 50-130
EH_long: 140
EH_long_CI: 84-197
EH_matched_PCR:   yes
MostCommonAnalystResponse_matched_PCR:   yes
GE_case713/GE_case713.svg