Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

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Figure 4.
Figure 4.

Length distributions of small and medium insertions and deletions under sequencing reads with respective concordances. Deletions are detected up to 500 bp and insertions up to 20 bp. A high prevalence of small indels, even-sized indels, and Alu-sized deletions (300–350 bp) are found in this genome. Larger indels (deletions 12 bp and higher and insertions 4 bp and higher) are called with more restrictive settings (see Methods) than smaller ones.

This Article

  1. Genome Res. 19: 1527-1541

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