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Forensic Practitioner's Guide to the Interpretation of Complex DNA Profiles

  • ID: 5007951
  • Book
  • September 2020
  • Region: Global
  • 500 Pages
  • Elsevier Science and Technology
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Over the past twenty years, there's been a gradual shift in the way forensic scientists approach the evaluation of DNA profiling evidence that is taken to court. Many laboratories are now adopting 'probabilistic genotyping' to interpret complex DNA mixtures. However, current practice is very diverse, where a whole range of technologies are used to interpret DNA profiles and the software approaches advocated are commonly used throughout the world.

The Forensic Practitioner's Guide to the Interpretation of Complex DNA Profiles places the main concepts of DNA profiling into context and fills a niche that is unoccupied in current literature. The book begins with an introduction to basic forensic genetics, covering a brief historical description of the development and harmonization of STR markers and national DNA databases. The laws of statistics are described, along with the likelihood ratio based on Hardy-Weinberg equilibrium and alternative models considering sub-structuring and relatedness. The historical development of low template analysis, theory and practice, is also described, so the reader has a full understanding of rationale and progression.

The authors have been at the forefront of the revolution, having made substantial contributions to theory and practice over the past two decades. All methods described are open-source and freely available, supported by sets of test-data. This book is written primarily for the biologist with little or no statistical training. However, sufficient information will also be provided for the experienced statistician. Consequently, the book appeals to a diverse audience.

- Covers short tandem repeat (STR) analysis, including database searching and massive parallel sequencing (both STRs and SNPs)- Encourages dissemination and understanding of probabilistic genotyping by including practical examples of varying complexity- Written by authors intimately involved with software development, training at international workshops and reporting cases worldwide using the methods described in this book
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1. Forensic Genetics
the basics
2. Empirical characterisation of DNA profiles
3. Allele drop-out and low template DNA
4. Probabilistic genotyping models Development of drop-out and drop-in theory towards
5. A qualitative model: LRmix Studio
6. EuroForMix
7. Validation and comparative studies
8. Implementation of EuroForMix in other software
9. Defining guidelines for using probabilistic genotyping software in forensic casework
10. Investigative expert systems and database searching
11. Application to Massive Parallel Sequencing Extending mixture theory to SNPs and
12. Interpretation of evidence, propositions and statement writing
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Gill, Peter

I joined the Forensic Science Service (FSS) in 1982. I began research into DNA in 1985, collaborating with Sir Alec Jeffreys of Leicester University. In the same year we published the first demonstration of the forensic application of DNA profiling. In 1987 I was given an award under the civil service inventor's scheme for my discovery of the preferential sperm DNA extraction technique and the development of associated forensic tests. I was employed as Principal Research Scientist at the Forensic Science Service (FSS). This was the highest scientific grade within the FSS. I am professor of Forensic Genetics and I hold concurrent positions at the Norwegian Institute of Public Health and the University of Oslo.


In 1993-4 I was responsible for leading the team which confirmed the identity of the remains of the Romanov family, murdered in 1918, and also the subsequent investigation which disproved the claim of Anna Anderson to be the Duchess Anastasia (using tissue preserved in a paraffin wax block for several decades). This was the first example in the world of the solving of an historical mystery that involved the analysis of very degraded and aged material, and was one of the first demonstrations of low-template DNA analysis.

Low-template DNA

In relation to the above, I was responsible for developing a 'super-sensitive' method of DNA profiling that is capable of analysing DNA profiles from a handful of cells. This method was originally known as low-copy-number (LCN) DNA profiling. Now it is known as Low template DNA profiling. New statistical methods and thinking were also developed to facilitate the new methods. I am currently completing a book (deadline of 31st March, 2014) to be published by Elsevier that describes methods to report 'trace-DNA' along with the various pitfalls that are illustrated by recent miscarriages of justice.

National DNA database

I was responsible for leading the team that developed the first multiplex DNA systems to be used in a National DNA database anywhere in the world, and for the design of the interpretation methods that are in current use (c.1995).

Court reporting

I have been involved with giving evidence in several high profile (controversial) cases - including the Doheny / Adams appeals, and the Omagh bombing trial in the UK.

Membership of scientific societies

Currently I am a member of the European Network of Forensic Science Institutes and chair of the 'methods, analysis and interpretation sub-section'. I chair the national UK DNA technical working group. I am chair of the International society of forensic genetics DNA commission on mixtures and I have written a number of ISFG recommendations on low-template and mixture interpretation that are highly cited. I am a member of the European DNA Profiling Group (EDNAP). I have published more than 180 papers in the international scientific literature - many of these are collaborative papers under the auspices of ISFG, EDNAP and ENFSI.

Bleka, Øyvind
Hansson, Oskar
Benschop, Corina
Haned, Hinda
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