Table 1.

Comparison of long-read CYP2D6 typing studies.

Study	Platform	Num. samples typed	Max. multiplex	Phasing	Chimera removal	Fusion calling	Copy num.	End-to-end pipeline available
Ammar et al.27	ONT MinION	1	1	Yes	No	No	qPCR	No
Qiao et al.24	PacBio RS II	39	NP	Noa	No	No	qPCR	No
Buermans et al.25	PacBio RS II	25	24	Yes	Yes	PCR	PCRb	No
Liau et al.26	ONT GridION	32	24	Yes	No	No	PCRb	No
This study	PacBio Sequel I/II	365	95	Yes	Yes	PCR + Seq	qPCR	Yes

NP not provided.

^aPhasing performed for a subset of samples using additional allele-specific PCR, not long-read sequencing.

^bPresence of duplication and deletion PCR products checked, however precise copy numbers of duplications were not attained.