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 #9 of 133:   GE_case31
Locus (Inheritance): AR (XR)
Sex: female
PCR_verdict: full-expansion
EH_verdict: full-expansion
MostCommonAnalystResponse: full-expansion
NumAnalystsMatchedPcr: 12
Premutation_[>]: 34
Pathogenic_[≥]: 38
PCR_short: 22
PCR_long: 48
EH_short: 23
EH_short_CI: 23-23
EH_long: 47
EH_long_CI: 23-47
EH_matched_PCR:   yes
MostCommonAnalystResponse_matched_PCR:   yes
GE_case31/GE_case31.svg