Probabilistic genotyping software: An overview

Michael D. Coble, Jo Anne Bright

Research output: Contribution to journalReview article

13 Scopus citations

Abstract

The interpretation of mixed profiles from DNA evidentiary material is one of the more challenging duties of the forensic scientist. Traditionally, analysts have used a “binary” approach to interpretation where inferred genotypes are either included or excluded from the mixture using a stochastic threshold and other biological parameters such as heterozygote balance, mixture ratio, and stutter ratios. As the sensitivity of STR multiplexes and capillary electrophoresis instrumentation improved over the past 25 years, coupled with the change in the type of evidence being submitted for analysis (from high quality and quantity (often single-source) stains to low quality and quantity (often mixed) “touch” samples), the complexity of DNA profile interpretation has equally increased. This review provides a historical perspective on the movement from binary methods of interpretation to probabilistic methods of interpretation. We describe the two approaches to probabilistic genotyping (semi-continuous and fully continuous) and address issues such as validation and court acceptance. Areas of future needs for probabilistic software are discussed.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalForensic Science International: Genetics
Volume38
DOIs
StatePublished - Jan 2019

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Keywords

  • DNA mixture
  • Forensic DNA
  • Interpretation
  • Mixture software
  • Probabilistic genotyping
  • Validation

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