For example, in a patient with autosomal recessive dihydropyrimidine dehydrogenase deficiency (DPD deficiency; OMIM: #274270) and single paternally inherited damaging SNV in DPYD, SR-GS identified the missing maternal variant, an intragenic inversion (~116 kb) with breakpoints in introns 8 and 12 of the DPYD [13] (Table 1). Here, DPYD is linked to dihydropyrimidine dehydrogenase deficiency.