FIG. 1.

Distribution of raw counts, alignability scores, relative parental depths, and allele balance across 12 Mendelian-inconsistent signatures. (a, c, e, g) Represent SNVs while (b, d, f, h) display data for Indels. X-axis lists the 12 distinct signatures representing the genotype calls in child, mother, and father where 0, 1, and 2 represent homozygous reference, heterozygous, and homozygous alternate genotypes, respectively. Signatures 1–4 (red) can be found in the event of a maternally inherited allele with a deletion, signatures 5–8 (green) represent absence of a deletion, and signatures 9–12 correspond to paternally inherited allele with a deletion. Repeat type “NA” represents positions that do not overlap with known repeats. SNV, single nucleotide variant; Indel, insertion deletion; MIC, Mendelian-inconsistent call.