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 #66 of 133:   GE_case623
Locus (Inheritance): FMR1 (XR)
Sex: male
PCR_verdict: normal
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 1
Premutation_[>]: 55
Pathogenic_[≥]: 200
PCR_short: 51
EH_short: 64
EH_short_CI: 50-76
EH_matched_PCR:   no
MostCommonAnalystResponse_matched_PCR:   no