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 #64 of 133:   GE_case620
Locus (Inheritance): FMR1 (XR)
Sex: male
PCR_verdict: normal
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 4
Premutation_[>]: 55
Pathogenic_[≥]: 200
PCR_short: 37
PCR_long:
EH_short: 58
EH_short_CI: 50-64
EH_long:
EH_long_CI:
EH_matched_PCR:   no
MostCommonAnalystResponse_matched_PCR:   no
GE_case620/GE_case620.svg