Table 4.
10X Genomics Linked-Reads technology to phase enhancer single-nucleotide polymorphism (SNP).
| Sample ID | Genotype | Allele predicted to carry the “enhancer” SNP per PHASE | Allele to which the “enhancer” SNP is linked by 10X Linked-Reads |
|---|---|---|---|
| HG00436 | *2x2/*71 | N/A1 | *2 |
| HG00589 | *1/*21 | N/A1 | *212 |
| NA12003 | *2/*3 | *2 | *2 |
| NA12813 | *2/*4 | *2 | *2 |
| NA18552 | *1/*14 | N/A1 | *14 |
| NA18959 | *2/*36+*10 | *2 | *2 |
| NA18973 | *1/*21 | N/A1 | *21 |
| NA18980 | *2/*36+*10 | *2 | *2 |
| NA19207 | *2/*10 | *2 | *2 |
| NA19239 | *15/*17 | N/A1 | *17 |
| NA19819 | *2/*4x2 | *2 | *2 |
DNA samples investigated for linkage between rs16947 and rs5758550 using 10X Genomics Linked-Reads. Only one sample, HG00589, was of sufficient integrity to support DropPhase2D6 (visualization see Supplemental Figure 1). 1Samples contained rare CYP2D6 alleles which were identified via Sanger sequencing; the SNP identifying the rare alleles were not part of the PHASE analysis. 2DropPhase2D6 confirmed linkage on the CYP2D6*21 allele.