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. Author manuscript; available in PMC: 2023 Jun 1.
Published in final edited form as: Pharmacogenet Genomics. 2022 Feb 21;32(4):159–172. doi: 10.1097/FPC.0000000000000466

Figure 4. CYP2A6*5’s identity with CYP2A7 leads to spurious read alignments which can be resolved by masking CYP2A7.

Figure 4.

a. Multiple sequence alignment showing exon 9 of CYP2A6*1 (NG_008377.1: 11574–11652; GRCh37: 41349779–41349701), CYP2A6*5, and WT CYP2A7 (NG_007960.1: 11982–12060; GRCh37: 41381676–41381598). Vertical dashes between alignments indicate identity, while dots indicate non-identical sequence. b. Alignment of CYP2A6*5 reads with and without masking of CYP2A7. Without masking of CYP2A7, CYP2A6*5 reads are interpreted by the read aligner as CYP2A7, and are incorrectly aligned to exon 9 of CYP2A7 during .bam file generation. Masking of CYP2A7 forces alignment of CYP2A6*5 reads to CYP2A6, allowing for accurate genotype calling.