Fig. 1
From: Medical implications of technical accuracy in genome sequencing
Complexity of the Genome. a The genome consists of several (overlapping) regions. Eighty-six percent of 35Â bp sequences and 95Â % of 100Â bp sequences are unique to one location in the reference genome. b A total of 50.6Â % of the non-N reference genome falls into a repeat (data from RepeatMasker). c There is great variation in exon count and number of exonic bases per gene (data from RefSeq). d An unrooted phylogenetic tree derived from multiple alignment of cDNA sequences of 10 voltage-gated sodium channel genes within the human genome illustrates the complexity evolutionary relationship of paralogous sequences which complicates the process of short-read alignment in next-generation sequencing. A related voltage gated calcium channel CACNA1L is included as an outgroup