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marker-panel.md

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The marker panel

gnomancer/data/markers.tsv is a plain TSV anyone can extend:

rsid  category  gene  label  ref  effect  interp0  interp1  interp2  note

ref/effect are the two alleles on the GRCh37 forward strand. effect is the allele that gets counted and interp0/1/2 is shown for 0/1/2 copies. Categories: ancestry, trait, health, carrier, pgx. See CONTRIBUTING.md for the sourcing rules.

Haplogroup context lives in gnomancer/data/haplogroup_context.tsv, matched by prefix so a call like R-M269 / R1b1a2a1a2 shows the chain R → R1b → R-M269.

Population frequencies

gnomancer/data/marker_frequencies.tsv holds the effect-allele frequency of every panel site in the five 1000 Genomes phase 3 super-populations (AFR, AMR, EAS, EUR, SAS), fetched from Ensembl's GRCh37 REST API by examples/fetch_frequencies.py. The report turns these into "how common is my genotype" under Hardy-Weinberg (p², 2pq, q²), shown for the user's super-population when --ancestry ran, else EUR, with all five on hover. Sites without 1000 Genomes data (mostly rare pharmacogenomic alleles) show a dash. Regenerate the table after adding markers.