Fig. 4
From: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
Screenshot of three heterozygous de novo deletions between the region 15q11.2 to 15q13 in proband K10031-10232. The deleted regions are denoted by the red boxes. The yellow tagging SNVs represent the SNVs that violate the Mendelian inheritance law. The non-deleted regions are denoted by the green tagging SNVs. Genome-wide average coverage (40X) is denoted by the grey dashed line. The breakpoints of these deletions (PWS Type I deletion) are chr15:22,749,401-23,198,800 (~449 Kb), chr15:23,608,601-28,566,000 (~4.96 Mb), and chr15:28,897,601-28,992,600 (95 Kb) (hg19). These deletions are not detected either in the proband’s father or the unaffected brother