Excap: maximization of haplotypic diversity of linked markers

PLoS One. 2013 Nov 7;8(11):e79012. doi: 10.1371/journal.pone.0079012. eCollection 2013.

Abstract

Genetic markers, defined as variable regions of DNA, can be utilized for distinguishing individuals or populations. As long as markers are independent, it is easy to combine the information they provide. For nonrecombinant sequences like mtDNA, choosing the right set of markers for forensic applications can be difficult and requires careful consideration. In particular, one wants to maximize the utility of the markers. Until now, this has mainly been done by hand. We propose an algorithm that finds the most informative subset of a set of markers. The algorithm uses a depth first search combined with a branch-and-bound approach. Since the worst case complexity is exponential, we also propose some data-reduction techniques and a heuristic. We implemented the algorithm and applied it to two forensic caseworks using mitochondrial DNA, which resulted in marker sets with significantly improved haplotypic diversity compared to previous suggestions. Additionally, we evaluated the quality of the estimation with an artificial dataset of mtDNA. The heuristic is shown to provide extensive speedup at little cost in accuracy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • DNA, Mitochondrial / genetics*
  • Databases, Nucleic Acid
  • Forensic Genetics / methods
  • Genetic Linkage
  • Genetic Markers*
  • Haplotypes / genetics*
  • Humans
  • Models, Genetic*

Substances

  • DNA, Mitochondrial
  • Genetic Markers

Grants and funding

The work of AK was funded through a scholarship of the Klaus Murmann Fellowship Programme of the Foundation of German Business (Stiftung der Deutschen Wirtschaft, SDW). PS is a Royal Academy of Sciences Research Fellow supported by a grant from the Knuth and Alice Wallenberg Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.