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 #95 of 133:   GE_case754
Locus (Inheritance): HTT (AD)
Sex: male
PCR_verdict: intermediate
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 11
Premutation_[>]: 35
Pathogenic_[≥]: 40
PCR_short: 15
PCR_long: 36
EH_short: 15
EH_short_CI: 15-15
EH_long: 36
EH_long_CI: 36-36
EH_matched_PCR:   yes
MostCommonAnalystResponse_matched_PCR:   yes
GE_case754/GE_case754.svg