Fig. 2.

Histogram of genotyping calls for 191 mutations sites in 132 mice from three pedigrees. The percentage of mutant allele reads out of total reads reflects the genotype; for example, 100% mutant allele reads/total reads represents a VAR genotype, i.e., homozygous mutant. Genotyping was performed by deep sequencing of genomic DNA after targeted amplification and yielded essentially REF, HET, and VAR genotypes exclusively; 7,636 data points are represented. Each data point represents one mutation site sequenced in one mouse.