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 #43 of 133: GE_case483
Locus (Inheritance): C9orf72 (AD)
Sex: female
PCR_verdict: full-expansion
EH_verdict: intermediate
MostCommonAnalystResponse: intermediate
NumAnalystsMatchedPcr: 0
Premutation_[>]: 30
Pathogenic_[≥]: 60
PCR_short: 5
PCR_long: expanded
EH_short: 5
EH_short_CI: 5-5
EH_long: 48
EH_long_CI: 36-59
EH_matched_PCR: no
MostCommonAnalystResponse_matched_PCR: no
GE_case483/GE_case483.svg