PGx: PharmVar genes (CYP1A2, CYP2A6, CYP2A13, CYP2C8, CYP3A4), CYP2A6 *4 from CN (PGX-001/006)
fetch_sources.sh downloads PharmVar per-gene zips; pgx db build adds core alleles for genes CPIC does not define (normalised against the FASTA, *1 = reference). Masks re-derived with the new variants. GeT-RM: CYP3A4 15/15, CYP2A6 7/9; all comparable genes 154/168 (CYP1A2/CYP2C8 definitions differ from GeT-RM's).
This commit is contained in:
1 parent
b96ae21c70
commit
9a39ae62fe
9 files changed
+289
-14
No files matched your search
@@ -16,6 +16,8 @@ used only as external subprocess oracles and are not copied or linked.
|
||||
| [UCSC Genome Browser](https://genome.ucsc.edu/) `cytoBand` tables (hg38, hg19) and `ncbiRefSeq` (RefSeq transcripts, NCBI) | Free for all uses (UCSC data terms; RefSeq is public domain) | `simurg/cn/data/cytoBand_GRCh3{7,8}.txt.gz` and the derived centromere/acrocentric mask BEDs are shipped; `scripts/build_annotation_bundle.sh` downloads cytoBand + ncbiRefSeq for gene lists; `simurg/pgx/data/pgx_cn_regions.GRCh38.v1.bed` is derived from ncbiRefSeq exon coordinates (`scripts/pgx/build_cn_regions.py`) |
|
||||
| [illuminaio](https://github.com/HenrikBengtsson/illuminaio) | GPL-2 | Documentation of IDAT field codes only; oracle via subprocess |
|
||||
| [CPIC](https://cpicpgx.org) database via the CPIC API (allele definitions, allele function, diplotype→phenotype tables) | CC0 1.0 | downloaded by `scripts/pgx/fetch_sources.sh` into `data/` (never committed); `simurg pgx db build` derives the local PGx DB from it; source version and file hashes are recorded in the DB `meta` table |
|
||||
| [PharmVar](https://www.pharmvar.org) haplotype definitions (Gaedigk et al. 2018 CPT 103:399) | PharmVar terms of use (attribution) | per-gene zips downloaded by `scripts/pgx/fetch_sources.sh` into `data/` (never committed); `simurg pgx db build` derives core-allele definitions for genes CPIC does not define |
|
||||
| [GeT-RM](https://www.cdc.gov/lab-quality/php/get-rm/reference-materials.html) consolidated PGx/HLA table (CDC) | US government work | validation truth only (`scripts/pgx/getrm_truth.py`), not redistributed |
|
||||
|
||||
## BSD-2-Clause (BeadArrayFiles, verbatim from its README)
|
||||
|
||||
|
||||
Reference in new issue
Block a user