kemal b96ae21c70 PGx: CYP2D6 structures from sub-region CN — *68+*4, *36+*10, *13 (PGX-013/018) ...

Sub-region CNs (p5, intron 2, exon 9) resolve full copies and *36/*68/*13 units; candidates carry the
tandem names, background alleles, and CPIC activity sums. GeT-RM: CYP2D6 13/15 top (NA12878 *3/*68+*4 and
NA11832 *1/*68+*4 exact), 15/15 within feasible; all genes 132/144.

2026-09-29 16:29:54 +01:00

..

build_cn_regions.py

PGx star alleles: pgx star-allele call (PGX-011..021), probe masks vs 1000G, GeT-RM validation (K-029)

2026-09-29 14:08:03 +01:00

demo36_identity.tsv

PGx CN: pgx copy-number train|call (CLI-031/032, PCN-001..017, IN-050), region BED v1, demo identities (K-028)

2026-09-29 13:16:19 +01:00

derive_masks.py

derive_masks: keep pysam's downloaded tabix indexes in data/pgx/cache, not the working directory

2026-09-29 16:00:25 +01:00

fetch_sources.sh

PGx DB: pgx db build from CPIC (PGX-001..005, IN-053, CLI-035)

2026-09-29 13:24:54 +01:00

getrm_truth.py

PGx: all CPIC gene kinds — G6PD, variant-based, HLA tags, *0 CN genes (PGX-006/007/021)

2026-09-29 16:24:33 +01:00

validate_cn_truth.py

PGx star alleles: pgx star-allele call (PGX-011..021), probe masks vs 1000G, GeT-RM validation (K-029)

2026-09-29 14:08:03 +01:00

validate_star_getrm.py

PGx: CYP2D6 structures from sub-region CN — *68+*4, *36+*10, *13 (PGX-013/018)

2026-09-29 16:29:54 +01:00