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 #55 of 133:   GE_case586
Locus (Inheritance): DMPK (AD)
Sex: female
PCR_verdict: full-expansion
EH_verdict: full-expansion
MostCommonAnalystResponse: full-expansion
NumAnalystsMatchedPcr: 12
Pathogenic_[≥]: 50
PCR_short: 10
PCR_long: expanded
EH_short: 10
EH_short_CI: 10-10
EH_long: 128
EH_long_CI: 99-158
EH_matched_PCR:   yes
MostCommonAnalystResponse_matched_PCR:   yes
GE_case586/GE_case586.svg