Commit Graph
8 Commits
Author SHA1 Message Date
Matiq ea8f531211 all transcripts via Ensembl REST (expand per variant, pan-cancer)
- vep_annotate now iterates all transcript_consequences
- timeout 15s, graceful fallback to single placeholder row
2026-09-06 20:20:48 +03:00
Matiq a3589279b9 annotate clean variants: Gen/HGVS/Effect + ACMG + AMP/Onco pan-cancer -> Excel
- all transcripts mode (VEP no_pick fallback to best transcript via Ensembl REST)
- HGVS c.6713C>T p.(Pro2238Leu) style, Type/Effect, VAF, PAF(empty), ACMG ClinVar+InterVar (VUS placeholder), AMP/Onco via OncoKB (token ~/.config/oncokb/token, tumor_type All Solid Tumors)
- Excel .xlsx styled (color by ACMG/AMP, filters, frozen header)
2026-09-06 19:19:19 +03:00
Matiq 4e19fbdb8a replace TSV with CSV for variant outputs 2026-09-06 18:47:00 +03:00
Matiq 0f40945d58 parallel: auto threads (n-1, capped at 8)
- --threads/-t (default auto = detected cores -1, cap 8)
- per-chromosome multiprocessing.Pool, FASTA caching
- robust nested dict handling for merged profiles
2026-09-06 18:27:54 +03:00
Matiq 5385f76447 filter damaged variants: clean output + VCF filtering
- flag C>T/G>A at read ends (end<=10) as FFPE-suspect, strand bias as supporting evidence
- outputs: candidate_variants.tsv [is_ffpe_suspect,ffpe_reason], clean_variants.tsv,
  ffpe_suspect_variants.tsv, candidate_CtoT/GtoA_clean.bed
- optional --vcf: produce .clean.vcf (without damaged) and .ffpe_flagged.vcf;
  with --keep-damaged mark FILTER=FFPE instead of removing
- auto-create BAM/FASTA index if missing, improved error messages
2026-09-06 18:18:29 +03:00
Matiq 5fe6298926 README: methodology, usage, outputs, classification, validation 2026-08-14 20:27:31 +03:00
Matiq 360479653a FFPE deamination QC pipeline
- ffpe_damage_v2.py: normalized C>T/G>A profiling (all 12 substitutions,
  R1/R2 and strand profiles, 5'/3' read-end distance, BED tracks, plots)
- ffpe_compare.py: low/moderate/high classification vs control samples
- make_test_data.py: synthetic BAM with known damage for validation
2026-08-14 20:26:25 +03:00
Matiq eaa0bad7a8 Initial commit 2026-08-14 20:25:38 +03:00