Abstract

(A) The circle plot illustrates identical pairs and (B) 1st-degree pairs across 9 Chinese cohorts. The solid links indicates anticipated relatedness between the CAS cohorts. The dashed link indicates relatedness identified across cohorts. The length of each cohort bar is proportional to their respective sample sizes. (C) The histogram shows all estimated relatedness using encG-reg between CAS1 and CAS2, most of which are unrelated pairs and the theoretical probability density function is given as the normal distribution (grey solid curve). The inset histogram on the left shows the estimated relatedness around 0.5 and the theoretical probability density function is given as the normal distribution (blue solid curve). The threshold (grey dot line) for rejecting H0 was calculated by . The inset histogram on the right shows the estimated relatedness around 1. The threshold (grey dot line) for rejecting H0 was calculated by . Here we included 208 controls merged from 1KG-CHN. . (D) Relationship verification for 19 Guangdong twins split in CAS cohorts. Dashed lines indicate inference criteria for detecting relatedness of different degrees. Solid line of y = x indicates the agreement between encG-reg and IBD. Points are colored with IBD-inferred relatedness in KING (identical in green, 1st-degree in blue, and unrelated in red) and are shaped according to encG-reg-inferred relatedness (identical in square, 1st-degree in diamond, and unrelated in circle). (E) and (F) Illustration for encG-reg estimation for sporadic related inter-cohort samples. The grey line is the criterion for identical pairs (slope of 1) or 1st-degree pairs (slope of 0.5). The solid lines colored in red are without adjustment for missing values (encG-reg score), and in the bottom (colored in purple) are adjusted for missing values (encG-reg score*).</p

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