Reference distributions for the full PGS Catalog on the 1000 Genomes panel
收藏资源简介:
Frozen scoring manifest and reference distributions for all 5,385 PGS Catalog models scored against all 3,202 individuals of the NYGC 1000 Genomes Project high-coverage release, produced by the memory-bounded GPU scorer described in the accompanying paper. The bundle contains the frozen scoring manifest, per-locus effect-allele frequencies in effect-allele orientation, PCA loadings for projection, the panel sample and target tables, and the raw, pooled-standardized, PC-adjusted and per-sample-coverage matrices, together with the build parameters, timings and thresholds. Reference means and standard deviations are computed over the 2,590 unrelated samples; the 612 trio children are scored but held out of the reference set. Median model coverage is 0.943, and 5,139 of 5,385 models pass the 0.75 coverage threshold; the remainder are flagged as not deployable rather than dropped. This release must not be applied to variant-only per-sample VCFs without a callable-region definition, because a locus absent from a sample's file is then ambiguous between hom-ref and uncalled, and the frozen imputation would be applied to genotypes that were in fact observed. Code: https://github.com/stormliucong/agent_optimized_pgs_calculation



