Fig. 1From: InvertypeR: Bayesian inversion genotyping with Strand-seq dataA A visual glossary: We use the term “inversion” broadly for general properties such as coordinates and size, or collectively for all genotypes. We use the term “genotype” for the inversion state (REF, HET, HOM, or ambiguous) in one of the 9 individuals. “Trio genotype” refers to a complete set of three non-ambiguous genotypes for a trio, which can then be checked for Mendelian concordance. B Summary of the 42 instances of Mendelian discordance among the HGSVC trio genotypesBack to article page