preferred_name: Whole genome sequence analysis for detection of small sequence changes, copy number variants, deletions, duplications, mobile element insertions, uniparental disomy (UPD), inversions, aneuploidy, mitochondrial genome sequence analysis with heteroplasmy and large deletions, short tandem repeat (STR) gene expansions in saliva specimen, with identification and categorization of genetic variants associated with rare constitutional and heritable disorders, each comparator genome