CNV detection and Mendelian errors for a Central American pedigree. Displayed are four families derived from an extended pedigree. Circles and squares correspond to females and males. The dashed line is used to indicate identical individuals. Beneath each individual, from top to bottom, are CNV genotypes by PennCNV and by GFL. The subjects for whom PennCNV and GLF infer different CNV genotypes are highlighted in red and blue. Red is used when PennCNV genotypes result in Mendelian error, while GFL genotypes do not. Blue is used when both genotypes are compatible with Mendelian transmissions. Orange singles out a member for whom both PennCNV and GFL genotypes result in Mendelian error.
Zhang et al. BMC Bioinformatics 2012 13:205 doi:10.1186/1471-2105-13-205