Graphical display of the 1 bp deletion in DMD. Exon 22 sequence read alignments for the case (top) and obligate carrier (bottom). The vertical solid grey bars represent the read depth and the horizontal grey bars represent aligned sequence reads with differences to the reference sequence highlighted. The position of the 1 bp deletion is highlighted by the two vertical black lines. The black horizontal lines in the sequence reads represent the deleted base, which is absent in case sequence reads and present in approximately half of the reads for the carrier.