Extended Data Figure 9.

Early embryonic mutations (n=7) identified from 3 large families.

a-g, Sequencing reads (using IGV images) for the seven mutation loci are shown. All mutations are subclonal to a specific allele of a heterozygous SNP in the vicinity. As expected to early embryonic mutations, the VAFs of mutatnt alleles are lower than 0.5 and the mutant alleles are not found in the genomes of all the parents and the siblings. Three mutations (panels b, c and d) were possible to perform ultrahigh-depth targeted amplicon sequencing (by MiSeq), and all were successfully validated.