Analyzing population structure for forensic STR markers in next generation sequencing data

Forensic Sci Int Genet. 2020 Nov:49:102364. doi: 10.1016/j.fsigen.2020.102364. Epub 2020 Aug 12.

Abstract

Match probabilities calculated during the evaluation of DNA evidence profiles rely on appropriate values of the population structure quantity θ. NGS-based methods will enhance forensic identification and with the transformation to such methods comes the need to facilitate NGS-based population genetics analysis. If NGS data are to be used for match probabilities there needs to be a way to accommodate population structure, which requires values for θ for those data. Such estimates have not been available. This study assesses population structure for sequence-based data using a relatively new approach applied to STR data over 27 loci in five different geographic groups. Matching proportions between individuals or groups are used to obtain locus-specific θ estimates as well as estimates per geographic group and a global measure. The results demonstrate similar effects of sequencing data on θ estimates compared to what has been seen for CE-based results.

Keywords: Forensic STR markers; NGS data; Population genetics; Sequence variation; θ.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • DNA Fingerprinting
  • Genetic Markers*
  • Genetics, Population*
  • Genotype
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Microsatellite Repeats*
  • Racial Groups / genetics
  • Sequence Analysis, DNA*

Substances

  • Genetic Markers