kemal e1cfb3dfd0 PGx: ClinPGx variant-based genes (PGX-008) and --guideline dpwg (PGX-025) ...

- fetch_sources.sh downloads ClinPGx clinicalVariants (CC BY-SA 4.0); pgx db build adds genotype-only
  variant-based genes (levels 1A-2B, level 3 for the parity list), rsIDs resolved from the manifest's probes:
  70 genes in the DB.
- pgx phenotype --guideline dpwg: CPIC mappings for CPIC genes (as ClinPGx curates DPWG), no phenotype for
  DPWG-only genes (flags dpwg_via_cpic_mapping / dpwg_mapping_not_available). K-029 updated.

2026-09-29 17:01:36 +01:00

..

cloud

v2 CN: truth validation script (NYGC 30x SV freeze V3) and cloud task cnv

2026-09-29 01:39:49 +01:00

p8

P8: GSE165845 validation scripts (prepare, §16.5 metrics) and cloud task

2026-09-28 17:43:31 +01:00

p10

P10 (WIP): release build script, Dockerfile, conda recipes, fresh-VM acceptance task

2026-09-28 22:41:56 +01:00

pgx

PGx: ClinPGx variant-based genes (PGX-008) and --guideline dpwg (PGX-025)

2026-09-29 17:01:36 +01:00

v2

cn_validate_truth: sensitivity by carrier frequency (rare < 5 % is the primary metric, K-027)

2026-09-29 11:57:58 +01:00

bootstrap_refs.sh

SimurgArray: master plan, repo scaffolding and data/ref fetch scripts

2026-09-27 15:20:06 +01:00

build_annotation_bundle.sh

v2 CN: cn annotate (JSON report, ISCN 2020, cytobands, genes) and the annotation bundle builder

2026-09-29 01:37:56 +01:00

build_dist.sh

P10 (WIP): release build script, Dockerfile, conda recipes, fresh-VM acceptance task

2026-09-28 22:41:56 +01:00

fetch_data.sh

P6: gtc-to-vcf (VCF/BCF + indexes), harmonisation, exports (plink, bedgraph, finalreport)

2026-09-28 12:17:53 +01:00

install_nightly.sh

P7: differential-testing harness (simurg compare) and nightly run on the Pi

2026-09-28 17:00:37 +01:00

make_oracle_gtcs.sh

P5a: QC — control metrics, thresholds, status, contamination, relatedness, locus summary

2026-09-28 08:35:10 +01:00

make_oracle_qc.sh

P5a: QC — control metrics, thresholds, status, contamination, relatedness, locus summary

2026-09-28 08:35:10 +01:00

make_oracle_vcf.sh

P6: gtc-to-vcf (VCF/BCF + indexes), harmonisation, exports (plink, bedgraph, finalreport)

2026-09-28 12:17:53 +01:00

nightly.py

P7: differential-testing harness (simurg compare) and nightly run on the Pi

2026-09-28 17:00:37 +01:00

pi_run.sh

V2 CN: CYTO-042 results (precision up, mosaic calls halved); pi_run reports process memory without page cache

2026-09-29 12:20:40 +01:00

validate_p1_large.py

P2 validation: oracle test and large-scale raw X/Y check

2026-09-27 20:57:42 +01:00

validate_p3_large.py

P3: vectorised nearest-neighbour search; task-driven cloud trials

2026-09-27 22:57:03 +01:00

validate_p4_large.py

P4 validated on 2141 vendor GTCs; legacy AutoCall 1.6.2 preset

2026-09-28 01:21:49 +01:00

validate_p5_large.py

P5: cloud task for cohort QC validation; configurable gp3 throughput; batched contamination map

2026-09-28 09:10:02 +01:00

validate_p6_vcf.py

P6 validated against GTCtoVCF too: zero unexplained genotype differences

2026-09-28 13:20:44 +01:00