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27 changes: 27 additions & 0 deletions README_external_rebuild.md
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# CAB external rebuild scaffold

This package adds scripts/configuration for raw external rebuild work.

It does not restore deprecated CAB claims automatically. It writes manifests, checksums, logs, parsed tables, failures, and publication-safe claim status files.

Install dependency:

```bash
python -m pip install pyyaml
```

Run on Linux/macOS/Git Bash:

```bash
bash run_external_rebuild.sh
```

Run on Windows PowerShell:

```powershell
powershell -ExecutionPolicy Bypass -File .\run_external_rebuild.ps1
```

gnomAD requires a local extracted sites table or custom API-backed lookup because full v4 resources are large. Set `gnomad.local_sites_table` in `config/external_resources.yaml`.

Patch-clamp supplementary tables require manual source/license review. No copyrighted article text scraping is performed.
107 changes: 107 additions & 0 deletions config/external_resources.yaml
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# CAB external rebuild resource configuration.
# Public endpoints were identified from official/public documentation where possible.
# Verify exact archived ClinVar snapshot file names before publication.
# Do not convert failed downloads into publication claims. Yes, apparently that needs to be written down.

clinvar:
current_variant_summary:
resource_name: ClinVar current variant_summary
version: current
release_date: current
url: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz
output: data/raw/clinvar/current/variant_summary.txt.gz
license_or_terms: NCBI ClinVar public FTP; verify current terms at access time.
current_submission_summary:
resource_name: ClinVar current submission_summary
version: current
release_date: current
url: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/submission_summary.txt.gz
output: data/raw/clinvar/current/submission_summary.txt.gz
license_or_terms: NCBI ClinVar public FTP; verify current terms at access time.
baseline_variant_summary:
resource_name: ClinVar baseline variant_summary
version: 2023-01
release_date: 2023-01
url: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/variant_summary_2023-01.txt.gz
output: data/raw/clinvar/2023-01/variant_summary_2023-01.txt.gz
license_or_terms: NCBI ClinVar public FTP; verify current terms at access time.
followup_variant_summary:
resource_name: ClinVar follow-up variant_summary
version: 2026-04
release_date: 2026-04
url: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/variant_summary_2026-04.txt.gz
output: data/raw/clinvar/2026-04/variant_summary_2026-04.txt.gz
license_or_terms: NCBI ClinVar public FTP; verify current terms at access time.

clingen:
gene_disease_validity:
resource_name: ClinGen Gene-Disease Validity
version: current
release_date: current
# If this direct CSV endpoint changes, download from https://search.clinicalgenome.org/kb/downloads and update this URL.
url: https://search.clinicalgenome.org/kb/gene-validity/download
output: data/raw/clingen/current/gene_disease_validity.csv
license_or_terms: ClinGen public resource; verify terms at access time.
cspec_registry:
resource_name: ClinGen CSpec Registry landing page
version: current
release_date: current
url: https://cspec.genome.network/cspec/ui/svi/
output: data/raw/clingen/current/cspec_registry_landing.html
license_or_terms: ClinGen CSpec public pages/API; structured export may require manual endpoint discovery.
evidence_repository:
resource_name: ClinGen Evidence Repository landing page
version: current
release_date: current
url: https://erepo.clinicalgenome.org/evrepo/
output: data/raw/clingen/current/evidence_repository_landing.html
license_or_terms: ClinGen Evidence Repository; structured export may require API/manual retrieval.

gnomad:
release: v4.1.1_or_latest_v4
documentation_url: https://gnomad.broadinstitute.org/downloads
local_sites_table: ""
required_columns:
- chr
- pos
- ref
- alt
- global_af
- popmax_af
- popmax_population
- ac
- an

mavedb:
api_base_url: https://api.mavedb.org/api/v1
genes:
- KCNQ1
- KCNH2
- KCNE1
- SCN5A
- RYR2
- CACNA1C
- CASQ2
- HCN4
- ANK2
- CALM1
- CALM2
- CALM3
- TRDN

patch_clamp:
manual_inventory_csv: data/raw/patch_clamp/manual_source_inventory.csv
priority_genes:
- KCNQ1
- KCNH2
- SCN5A
- RYR2
- CACNA1C
- KCNE1
- CASQ2

cab_inputs:
master_candidates:
- data/processed/cab_causal_architecture_assignments.csv
- data/processed/cab_routing_assignments.csv
failure_membership: data/processed/cab_failure_membership_explicit.csv
943 changes: 943 additions & 0 deletions data/processed/cab_clinvar_temporal_alignment_raw_rebuilt.csv

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943 changes: 943 additions & 0 deletions data/processed/cab_clinvar_temporal_endpoints_rebuilt.csv

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