Fig. 2

Overview of variant calling in WGS data. a Number and type of gene variants called in each of the three families segregating OA with number of shared variants. For SNVs and small indels, we identified 59 heterozygous variants in Family 1, 3 heterozygous variants in Family 2 and 3 heterozygous variants in Family 3 compatible with a dominant model. None of these variants were shared between all three families. For splice variants identified using SpliceAI, we identified 40 heterozygous variants in Family 1, 5 variants in Family 2 and 6 variants in Family 3. Four splice variants were shared by all three families. For structural variants we identified 389 SVs (339 DEL, 47 DUP and 3 INV) in Family 1, 193 SVs (172 DEL, 19 DUP and 2 INV) in Family 2 and 153 SVs (135 DEL, 17 DUP and 1 INV) in Family 3. In total, 52 SVs (43 DEL and 9 DUP) were shared by all three families. b Number of genes with annotated variants in each family and the number of genes shared by all affected individuals. When combining our data sets (a) we identified rare SNVs, splice variants or SVs that were annotated to in total 100 different genes in all three families. AF; allele frequency