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 #28 of 133:   GE_case253
Locus (Inheritance): ATXN2 (AD)
Sex: male
PCR_verdict: normal
EH_verdict: full-expansion
MostCommonAnalystResponse: normal
NumAnalystsMatchedPcr: 8
Premutation_[>]: 31
Pathogenic_[≥]: 33
PCR_short: 22
PCR_long: 22
EH_short: 22
EH_short_CI: 22-22
EH_long: 42
EH_long_CI: 22-42
EH_matched_PCR:   no
MostCommonAnalystResponse_matched_PCR:   yes