Chapter 6: Structural Variation and Medical Genomics
Figure 2
Two major approaches to detect structural variants in an individual genome from next-generation sequencing data are de novo assembly and resequencing.
In de novo assembly, the individual genome sequence is constructed by examining overlaps between reads. In resequencing approaches, reads from the individual genome are aligned to a closely related reference genome. Examination of the resulting alignments reveals differences between the individual genome and the reference genome.