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reproduce_setup/pgx-main/results/cyp2d6/alleles/CAN-NA12878-1-29Mar2025_S20_cyp2d6.alleles
2025-08-18 12:06:58 +02:00

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CYP2D6 Star Allele Calling with StellarPGx
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Initially computed CN = 3
Sample core variants:
42126611~C>G~0/1;42127526~C>T~0/1;42128241~CT>C~0/1;42130692~G>A~0/1
Candidate alleles:
[10.v1_139.v1]
Result:
Possible novel allele or suballele present: interpret with caution; experimental validation and expert review through PharmVar is recommended
Likely background alleles:
[*10/*139]
Activity score:
Indeterminate
Metaboliser status:
Indeterminate