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 #38 of 133: GE_case472
Locus (Inheritance): C9orf72 (AD)
Sex: female
PCR_verdict: intermediate
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 12
Premutation_[>]: 30
Pathogenic_[≥]: 60
PCR_short: 10
PCR_long: 50
EH_short: 10
EH_short_CI: 10-10
EH_long: 36
EH_long_CI: 29-41
EH_matched_PCR: yes
MostCommonAnalystResponse_matched_PCR: yes
GE_case472/GE_case472.svg