FIGURE LEGEND
Figure 1 . Study workflow.
Figure 2 . The composition and yield of the cohort and result comparison with previous genomic tests. (a) Previous genomic tests received by study participants, including the diagnostic yield for each test and the number of families that could be solved by reanalysis. (b) Missed diagnosis scenarios. *WGSI010XH family harbored two complex variants in a new disease-causing gene and was counted in the “complex variants” group only.
Figure 3 . Variants detected by genome sequencing but not by exome sequencing. The bam files of the genome sequencing (upper panel) and exome sequencing (lower panel) of the same sample were visualized by Integrative Genomics Viewer. (a) iw225 of Family WGSI072XH carried a heterozygous variation NM_152224.6:c.1811C>T which was dropped by exome sequencing. (b) iw028 of Family WGSI010XH harbored a complex heterozygous variant NM_032756.2:c.215_226delinsTGTACGGCCTGGAT. The variants would cause capture insufficiency, thus hampered variant calling.
Figure S1 . The contaminated sample iw052. (a) iw052 sample had lower alignment ratio compared to other sequencing samples. (b) 99.3% of the unaligned reads could be mapped to enterobacterial.