Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution

  title={Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution},
  author={Zhaoshi Jiang and Haixu Tang and Mario Ventura and Maria Francesca Cardone and Tom{\`a}s Marqu{\`e}s-Bonet and Xinwei She and Pavel A. Pevzner and Evan E. Eichler},
  journal={Nature Genetics},
Human segmental duplications are hotspots for nonallelic homologous recombination leading to genomic disorders, copy-number polymorphisms and gene and transcript innovations. The complex structure and history of these regions have precluded a global evolutionary analysis. Combining a modified A-Bruijn graph algorithm with comparative genome sequence data, we identify the origin of 4,692 ancestral duplication loci and use these to cluster 437 complex duplication blocks into 24 distinct groups… CONTINUE READING
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