Coverage Rules
Coordinates are checked against all array designs simultaneously. Each technology has its own coverage threshold:
EADx / GenomeDx / ISCA: ≥ 3 reliable probes within exon or ±250bp flanking. Artifact-overlapping probes excluded (except ISCA).
MLPA Kits: ≥ 1 probe over the coding exon. Probes marked “ignore” or “do not use” are excluded. No artifact filtering.