Fig. 1: Deletion junctions characterized from exome sequencing split reads. | Genetics in Medicine

Fig. 1: Deletion junctions characterized from exome sequencing split reads.

From: Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Fig. 1

Characterization of deletion breakpoints within (a) intron 32 of MADD and intron 23 of MYBPC3 in patient CMD1; (b) intron 224 and exon 335 of TTN in patient CBD1; and (c) a 1.1 Mb deletion involving KCNH2 in patient NSW76A. Top two panels show sequence reads spanning breakpoint junctions in the reference sequence. Gray horizontal bars are sequencing reads; nucleotides that differ from the reference sequence are shown in colors. Middle panels show Sanger sequencing electropherograms across the breakpoint junctions. Bottom panels show alignments of breakpoint junction sequences (bold) in the reference sequence with regions of microhomology in stippled boxes.

Back to article page