Fig. 6. Detection of NF1 deletion from clinical exome sequencing data.

a Plot of linked-reads for NF1 WES sample spanning chr17:29645000–29855000. In the normal allele (top), there are 71 fragments crossing over the left breakpoint and 38 fragments crossing over the right breakpoint. In the variant allele (bottom), the linked reads are separated by a large gap. Horizontal lines represent linked reads with the same barcode; dots represent reads; colors indicate barcodes. Dashed vertical red lines represent breakpoints. b Zoom-in plot of supporting fragments for the deletion. One read pair was found to support the deletion.