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 #46 of 133:   GE_case562
Locus (Inheritance): CACNA1A (AD)
Sex: female
PCR_verdict: intermediate
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 12
Premutation_[>]: 17
Pathogenic_[≥]: 20
PCR_short: 11
PCR_long: 18
EH_short: 11
EH_short_CI: 11-11
EH_long: 18
EH_long_CI: 18-18
EH_matched_PCR:   yes
MostCommonAnalystResponse_matched_PCR:   yes
GE_case562/GE_case562.svg