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 #10 of 133:   GE_case80
Locus (Inheritance): ATN1 (AD)
Sex: female
PCR_verdict: full-expansion
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 2
Premutation_[>]: 34
Pathogenic_[≥]: 48
PCR_short: 16
PCR_long: 54
EH_short: 20
EH_short_CI: 20-20
EH_long: 47
EH_long_CI: 20-50
EH_matched_PCR:   no
MostCommonAnalystResponse_matched_PCR:   no