Mapping to a Reference Genome Structure

Mapping to a Reference Genome Structure
Benedict Paten, Adam Novak, David Haussler
Comments: 25 pages
Subjects: Genomics (q-bio.GN)

To support comparative genomics, population genetics, and medical genetics, we propose that a reference genome should come with a scheme for mapping each base in any DNA string to a position in that reference genome. We refer to a collection of one or more reference genomes and a scheme for mapping to their positions as a reference structure. Here we describe the desirable properties of reference structures and give examples. To account for natural genetic variation, we consider the more general case in which a reference genome is represented by a graph rather than a set of phased chromosomes; the latter is treated as a special case.

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