Fig. 3: Families with high confidence variants analysed by genome sequencing.



Families analysed by Genome Sequencing. Pedigrees (A–F, M–R, Y-D1) from 18 families with 18 different high confidence variants. Sequence chromatograms (G, I, J, L, S, V, W, X, E1) showing de novo or inherited variants. Sanger sequencing was not performed for the variants in eight of the families (H, K, T, U, F1, G1, H1, I1) because they had variants in known genes with sufficient coverage in the genome sequencing to be confident they were real, heterozygous variants. The large duplication in Family 17 (J1) could not be validated by Sanger sequencing.