De novo assembly of human genomes with massively parallel short read sequencing

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Figure 3.
Figure 3.

Examples of deletion and insertion identified in the comparison of the assembled individual human genomes and the NCBI reference genome. (A) A 17-bp deletion in scaffold27122121 of the African genome located on chromosome 7. (B) A 7926-bp insertion in scaffold4928 of the Asian genome located on chromosome 7. The inserted sequence fragment was validated by a human BAC clone AC153461.2 in GenBank, and also exists in the chimpanzee genome.

This Article

  1. Published in Advance December 17, 2009, doi: 10.1101/gr.097261.109 Genome Res. 20: 265-272

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