Extended Data Figure 1: Filters to exclude mutation candidates in regions with copy number variation. | Nature

Extended Data Figure 1: Filters to exclude mutation candidates in regions with copy number variation.

From: Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

Extended Data Figure 1

a, For every blood sample, we assessed the distribution of coverage of around 3 million inherited SNP loci. Using this distribution, we determined a cut-off value that is used for inter-sample CNV filtering (see Methods). In the case of PD3989b shown in the figure, candidate mutation loci with >51× coverage were considered to be located on copy number gain thus removed. b, An example of inter-sample CNV filtering (see Methods). Normalized coverage for chr11:14,446,619 region of PD4116b is located in the normal copy number (CN = 2) cluster. c, Copy number gain was identified in a candidate mutation locus (chr6:285,671) from PD4116b by the inter-sample CNV filtering method. Therefore, this mutation candidate was removed from further downstream analyses.

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