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.