Detection of simple and complex de novo mutations with multiple reference sequences

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Figure 1.
Figure 1.

Extent of reference-characterized and -uncharacterized novelty among 18 progeny from an experimental cross between 3D7 and HB3 P. falciparum isolates, sequenced by the MalariaGen project (Illumina 76-bp reads, ∼100× coverage). (A) Novel k-mers observed in the reference-based analysis (“explained”; bars above x-axis) versus novel k-mers remaining from the reference-free analysis (“unexplained”; bars below x-axis). (B) Reads that map uniquely to the reference genome (MQ > 0; green) versus mapping multiple times or not mapping at all (MQ = 0; red), conditioned on the read containing a novel k-mer. For further details, see Supplemental Material.

This Article

  1. Genome Res. 30: 1154-1169

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