Extended Data Fig. 2: Recombination breakpoint map of CEPH 1463.
From: Human de novo mutation rates from a four-generation pedigree reference
a) Depiction of intergenerational (G1- > G4) inheritance of a 1 Mbp assembled contig. Alignments transmitted between generations that are >99.99% identical (red) are contrasted with non-transmitted with lower sequence identity (grey). b) T2T recombination between child and parental haplotypes for Chromosome 8. Alignments between the parental and child haplotypes are binned into 500 kbp long bins and coloured based on the percentage of matched bases. Inherited maternal (shades of red) and paternal (shades of blue) segments are marked on top. Dashed arrows show zoom-in of the two recombination breakpoints that differ in size of the region of homology at the recombination breakpoint. Black tick marks show positions of mismatches between parental and child haplotypes. c) Distribution of distances of maternal (red) and paternal (blue) recombination breakpoints (G2-G4) to chromosome ends with respect to T2T-CHM13 (histogram bin size: 50). d) Significant association between the number of recombination breaks (y-axis) and parental age (x-axis) shown separately for maternal (red) and paternal (blue) recombination breakpoints (G2-G3) detected with respect to T2T-CHM13. Regression lines were fitted using Poisson GLM with a log link (p = 2.02 × 10−3, 7.88 × 10−4 for parental age and sex effects, respectively).
