SYSTEMS AND METHODS FOR MITOCHONDRIAL ANALYSIS

摘要

The invention provides methods of analyzing an individual's mtDNA by transforming available reference sequences into a directed graph that compactly represents all the information without duplication and comparing sequence reads from the mtDNA to the graph to identify the individual or describe their mtDNA. A directed graph can represent all of the genetic variation found among the mitochondrial genomes across all of a number of reference organisms while providing a single article to which sequence reads can be aligned or compared. Thus any sequence read or other sequence fragment can be compared, in a single operation, to the article that represents all of the reference mitochondrial sequences.

主权项

1. A method for analyzing a mitochondrial genome from an organism, the method comprising:
representing a plurality of mitochondrial sequences as a directed graph comprising objects stored in a tangible memory device, wherein portions of the sequences that match each other when aligned are each represented by a single object and wherein each of the sequences is represented by a path through the directed graph; obtaining sequence reads from a sample from a subject; finding alignments between the sequence reads and paths through the directed graph using a processor coupled to the tangible memory device; and providing a report that identifies a one or more of the mitochondrial sequences that aligned to the sequence reads.