This report provides an assessment of coverage for Example.
It contains the following sections:
Summary including per gene coverage chart.
Table of exons with sub-optimal coverage (<100% coverage at 50x).
Interactive plots of exons with sub-optimal coverage.
A summary table of average coverage across all genes.
Full gene coverage plots.
Table of per exon coverage across all genes.
Coverage of known variants (if specified).
n.b. all coverage plots are displayed relative to the + strand.
Summary
Reference build used for aligment GRCh37 (hs37d5)
Genes in the applied panel(s): 15
Low coverage threshold: < 50x
Panel coverage at 50x: 98.56 %
Genes with 100% coverage at 50x: 6
Genes not 100% covered at 50x: 9
Clinical report summary:
ADGRG1 (NM_005682.5); ARX (NM_139058.2); CASK (NM_003688.3); DCX (NM_000555.3); DYNC1H1 (NM_001376.4); LAMB1 (NM_002291.2); NDE1 (NM_001143979.1); OCLN (NM_002538.3); PAFAH1B1 (NM_000430.3); RELN (NM_005045.3); TUBA1A (NM_001270399.1); TUBA8 (NM_018943.2); TUBB2B (NM_178012.4); TUBB3 (NM_006086.3); VLDLR (NM_003383.3).
Genes with coverage at 50x less than 90%:
ARX (NM_139058.2) 84.07%; OCLN (NM_002538.3) 85.87%.
98 % of this panel was sequenced to a depth of 50x or
greater.
Exons with <100% coverage at 50x
Of the 15 genes included in the panel, 19 exons in
9 genes had sub optimal-coverage.
To assess what portion of the exon(s) have sub-optimal coverage, the plots below display
an interactive window on hovering, showing the coverage at that current base.
The top right also contains a toolbar, with functions such as panning and zooming.
Plot
Per gene coverage summary
The following section provides coverage metrics of each gene.
The table below contains metrics for each gene averaged across all of its exons. Plots of each gene are also included below.
Gene
Transcript
Min
Mean
Max
10x
20x
30x
50x
100x
Per exon coverage
The following section provides coverage metrics for every exon of each gene.
Gene
Transcript
Chr
Exon
Length
Start
End
Min
Mean
Max
10x
20x
30x
50x
100x
Coverage of Known Variants
Below are tables giving coverage of known variants. The low coverage table gives those not covered at 50x,
and the high coverage table contains those covered above 50x.
0 variants were within the given panel regions and included for analysis
0 (0 %) were covered at or above 50x
0 (0 %) variants were not covered at 50x
0 (0 %) variants spanned region boundaries
Table of variants with low coverage (< 50x)  
No variants with coverage < 50x
Table of variants with high coverage (>= 50x)