Current next generation sequencing technology may not meet forensic standards

Forensic Sci Int Genet. 2012 Jan;6(1):143-5. doi: 10.1016/j.fsigen.2011.04.004. Epub 2011 May 11.


In a Nature paper of 2010, the concern was raised that intra-individual mtDNA variation may be more pronounced than previously believed, in that heteroplasmies are common and vary markedly from tissue to tissue. This claim taken at face value would have considerable impact on forensic casework. It turns out however that the employed technology detected the germ-line variation relative to the reference sequence only incompletely: on average at least five mutations were missed per sample, as an in silico reassessment of the data reveals. Before one can really set out to access to entire mtDNA genome data with relative ease for forensic purposes, one needs careful calibration studies under strict forensic conditions-or might have to wait for another generation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calibration
  • DNA, Mitochondrial / genetics
  • Forensic Genetics*
  • Humans
  • Mutation


  • DNA, Mitochondrial