Inference of Ancestry in Forensic Analysis I: Autosomal Ancestry-Informative Marker Sets

Methods Mol Biol. 2016:1420:233-53. doi: 10.1007/978-1-4939-3597-0_18.

Abstract

An expanding choice of ancestry-informative marker single nucleotide polymorphisms (AIM-SNPs) is becoming available for the forensic user in the form of sensitive SNaPshot-based tests or in alternative single-base extension genotyping systems (e.g., Sequenom iPLEX) that can be adapted for analysis with SNaPshot. In addition, alternative ancestry-informative variation: Indels and STRs can be analyzed using direct PCR-to-CE techniques that offer the possibility to detect mixed profiles. We review the current forensically viable AIM panels, their optimized PCR multiplexes, and the population differentiation power they offer. We also describe how improved population divergence balance can be achieved with the enlarged multiplex scales of next-generation sequencing approaches to enable analysis of admixed individuals without biased estimation of co-ancestry proportions.

Keywords: AIM-SNP; Genetic ancestry; Indels; Next-generation sequencing (NGS); Population genetics; SNP; SNaPshot.

Publication types

  • Review

MeSH terms

  • Electrophoresis, Capillary / methods
  • Forensic Genetics / methods*
  • Genetic Markers*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Microsatellite Repeats
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide

Substances

  • Genetic Markers