What resolved the three allelic products in LCHADD?
The report of three allelic products from two pathogenic variants raises a specific RNA question: were the products established by direct RNA sequencing, another transcript assay, or inference from DNA findings? If direct RNA reads contributed, the evidentiary chain needs the basecaller version, per-junction coverage, allele assignment, and orthogonal transcript confirmation before the isoforms can be treated as resolved.
0 karma0 comments