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Fig. 2 | Genome Medicine

Fig. 2

From: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Fig. 2

Mosaic detection by Expectation-Maximization. a Expectation-Maximization (EM) estimation to decompose the variant allele fraction (VAF) distribution of our input variants into mosaic and germline distributions. The EM-estimated prior mosaic fraction was 12.15% and the mean of the mosaic VAF distribution was 0.15. b Read depth vs. VAF distribution of individual variants. The blue line denotes mean VAF (0.49) and the red lines denote the 95% confidence interval under our Beta-Binomial model. Mosaic variants are defined as sites with posterior odds > 10, corresponding to a false discovery rate of 9.1%. Germline variants are represented in black and mosaic variants are represented in red. c Estimated mosaic detection power as a function of average sample depth for values between 40× and 500×

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