Extended Data Figure 1: Comparison of sequencing metrics for putative de novo calls and parental singletons.

a–e, Putative de novo calls (child heterozygous, both parents homozygous reference; N parent-proband trios = 623) were compared with variants observed in only a single parent (“singletons”), in terms of depth of all reads at the variant site (a), fraction of reads with the alternate allele (AB = allele balance) (b), mapping quality of the reads at the site (MQ) (c), the likelihood of the heterozygous genotype (PL = Phred-scaled likelihood) (d), and the number of other samples in the present study with a non-reference allele at that site (AAC = alternate allele count) (e). Distributions were calculated for putative de novo variants (red), or grouped by sites of putatively recurrent de novo mutations (orange) when relevant, transmitted singletons (green), and non-transmitted singletons (blue).