Figure 2.

Using BLAST to identify NUMTs: The full mtDNA sequence from multiple individuals is aligned against the reference nuclear DNA (nDNA) with nucleotide BLAST in order to build a database of common NUMTs. Nucleotide BLAST searches performed between a sample nDNA and a database of common NUMTs can detect annotated ancestral NUMTs present in the sample nDNA, but cannot effectively detect polymorphic NUMTs specific to individuals, which are the majority of NUMTs found in humans. Hence, nucleotide BLAST will miss the vast majority of NUMTs, which are polymorphic NUMTs unique to individuals [1].