Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing

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Figure 2.
Figure 2.

A complex sSMC involving Chromosomes X, 7, and 5. (A) Schematic of the chromosomes involved and the resulting structure of the derivative Chromosome 7 identified in RD_P328. (B) Integrative Genomics Viewer images of short-read genome sequencing (srGS) and long-read genome sequencing (lrGS) data for each BPJ. (C) Breakpoint sequences of the two BPJs with the chimeric sequence in the center aligned to the reference sequences shown in pink and blue. Microhomology is indicated in green. Coordinates according to genome build T2T-CHM13v2.0.

This Article

  1. Genome Res. 36: 661-670

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