Fig. 1: Comparative coverage across panel genes. | Genetics in Medicine

Fig. 1: Comparative coverage across panel genes.

From: Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Fig. 1

a Bar graphs showing breadth of coverage, that is, the median (±1st and 3rd quartiles) percentage of positions covered by ≥15 sequence reads with genome sequencing (GS), panel sequencing (PS), and exome sequencing (ES) (SSv5 and CREv2) for targeted regions on the PS panel (“panel targets”) and b exons in Ensembl isoforms of these genes (“Ensembl exons”). c Histograms comparing GS depth of read coverage across representative gene exons with PS and d ES (SSv5). Note lack of uniform coverage due to capture bias in c and discrepancy between actual exons and WES target regions in d. e Overlap of protein-coding nucleotides contained within Ensembl isoforms with regions targeted on PS panel and f WES (SSv5), i.e., regions targeted by ES (“ES targets”) and targeted protein-coding exons (“ES exons”). g Breadth of coverage across panel genes with varying ES input in Gigabases (Gb) showing ES SSv5 exons (red) and Ensembl exons (orange); GS breadth of coverage across the same Ensembl exons is indicated by dashed line (teal), assuming the ~34× genome-wide average coverage used in this study

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