Fig. 4. GWAS analysis pipeline and heritability enrichment in functional annotations.

(A) Computational pipeline for analyzing GWAS of gestation duration. Yellow boxes (input data): GWAS summary statistics and functional annotations from endometrial stromal cells (in both untreated and decidualized cells). Green boxes: Stages of statistical analysis (see Materials and Methods). (B) Stratified LDSC heritability analysis of GWAS of gestational duration using functional annotations. Left: Fold enrichment of heritability in each annotation. Dashed line shows values at 1, i.e., no enrichment. Center: Proportion of heritability explained by each annotation. Right: Proportion of SNPs across the genome that fall within an annotation. For each annotation, enrichment (left) is the ratio of h² proportion (center) divided by the SNP proportion (right). Error bars represent 95% confidence intervals.