Fig. 4: Comparison of carrier frequencies among different cohorts. | npj Genomic Medicine

Fig. 4: Comparison of carrier frequencies among different cohorts.

From: A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders

Fig. 4

a Comparison between gnomAD populations and SG10K subpopulations, ChinaMAP Chinese or WBBC Chinese. Spearman’s rank correlation coefficient and Pearson correlation coefficient R scores are illustrated in each cell and color coded. Red indicates high correlation, while blue indicates low correlation. b Comparison between SG10K subpopulations and ChinaMAP Chinese or WBBC Chinese. c Comparison between ChinaMAP Chinese and WBBC Chinese. See also Supplementary Fig. 4 for comparison scatter plots and corresponding statistical P values. d Spearman’s correlation coefficients generated between our calculated carrier frequencies of gnomAD populations and actual ethnicity specific carrier frequencies recorded from NGS based ECS (Taber et al. 2022 study, ref. 6). AFR African or African-American, ASJ Ashkenazi Jewish, MWH Mixed or Other White, FCA French Canadian or Cajun, EAS East Asian, FIN Finnish, AMR Hispanic (corresponding to the Latino/Admixed American population in gnomAD), MEA Middle Eastern, NEU Northern European, SAS South Asian, SEA Southeast Asian, SEU Southern European. The color stands for row-wise Z score scaled Spearman’s correlation coefficient. See also Supplementary Fig. 5 for Pearson correlation coefficients.

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