Fig. 4: Defining complex mega-NUMTs.
From: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
a Split reads align to both mtDNA-derived and nuclear DNA sequences (top). Discordant reads are paired reads where one end aligns to mtDNA-derived sequences and the other end aligns to nuclear DNA sequences (middle). Possible constructed concatemer is shown at the bottom with observed supporting split reads. The positions of breakpoints (bp) are shown on both nuclear DNA (top) and mtDNA (bottom). b IGV screenshots showing the reads not properly aligned to mtDNA-derived sequences. The reads are coloured by pair orientation. Many read pairs with anomalous pair orientations in the fathers and probands support the mtDNA-derived sequence rearrangement. In Family 5 and Family 7, the fathers and offspring carried the same NUMT, they also carried the same nuclear-mtDNA junctions and the junctions within mtDNA-derived sequences. The defined junctions by split reads from the other five families are included in Supplementary Fig. 8.
