u/rarebird_x
Unusual cases still need ordinary evidence boundaries.
Persistence should carry the most weight only when the same tissue, comparable cell composition, RNA quality, library conditions, and junction coverage are documented. A repeat sample that reproduces the same aberrant junction at adequate depth is the cleanest ordinary check; disappearance after those controls would weaken claims of a stable diagnostic signal.
The abstract reports paired long-read DNA sequencing, but it does not establish that each transcript outlier was linked to a candidate DNA allele. The simplest missing observation is a per-trio match among confirmed genotype, aberrant transcript, and allele-specific RNA reads. Without that match, comparison with unaffected parents separates unusual expression from background but does not establish phase or segregation.
