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Advanced Topics in Forensic DNA Typing: Interpretation - 1st Edition - ISBN: 9780124052130, 9780124058545

Advanced Topics in Forensic DNA Typing: Interpretation

1st Edition

Author: John Butler
Hardcover ISBN: 9780124052130
eBook ISBN: 9780124058545
Imprint: Academic Press
Published Date: 28th July 2014
Page Count: 608
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Advanced Topics in Forensic DNA Typing: Interpretation builds upon the previous two editions of John Butler’s internationally acclaimed Forensic DNA Typing textbook with forensic DNA analysts as its primary audience. Intended as a third-edition companion to the Fundamentals of Forensic DNA Typing volume published in 2010 and Advanced Topics in Forensic DNA Typing: Methodology published in 2012, this book contains 16 chapters with 4 appendices providing up-to-date coverage of essential topics in this important field. Over 80 % of the content of this book is new compared to previous editions.

Key Features

  • Provides forensic DNA analysts coverage of the crucial topic of DNA mixture interpretation and statistical analysis of DNA evidence
  • Worked mixture examples illustrate the impact of different statistical approaches for reporting results
  • Includes allele frequencies for 24 commonly used autosomal STR loci, the revised Quality Assurance Standards which went into effect September 2011


Researchers and practitioners in forensic DNA analysis, forensic scientists; legal professionals, military, private and public forensic laboratories, forensic science graduate and post-graduate students.

Table of Contents

  • About this Book
  • Dedication
  • Foreword
  • Introduction
  • Acknowledgments
  • About the Author
  • Section I. Data Interpretation
    • Chapter 1. Data Interpretation Overview
      • Purpose of This Book
      • The Interpretation Process
      • Characteristics of Ideal Data
      • Guidance for DNA Interpretation
      • A Match or not a Match: That is the Question…
      • STR Loci, Kits, and Population Data
      • Summary
    • Chapter 2. Data, Models, Thresholds
      • Data Collection in ABI Genetic Analyzers
      • Models
      • Thresholds Used in STR Typing
      • Setting and Using Analytical Thresholds
    • Chapter 3. STR Alleles and Amplification Artifacts
      • Introduction
      • Overview of the STR Typing Process
      • STR Alleles and Their Measurement
      • Variant and “Off-Ladder” Alleles
      • Artifacts of STR Allele Amplification
      • Non-Template Addition
      • Stutter Products
      • Null (Silent) Alleles
    • Chapter 4. STR Genotypes: Heterozygote Balance, Stochastic Thresholds, Allele, and Concordance Studies
      • Importance of Genotypes vs. Alleles
      • Peak Height Ratios
      • Stochastic Thresholds and Allele Drop-out
      • Concordance Studies and Null Alleles
    • Chapter 5. STR Profiles: Multiplex PCR, Tri-Alleles, Amelogenin, and Partial Profiles
      • Introduction
      • Multiplex PCR Challenges
      • STR Profile Evaluation
      • Tri-Allelic Patterns
      • Gender Identification with Amelogenin
      • Partial DNA Profiles
    • Chapter 6. DNA Mixtures
      • General Information
      • Tools for Mixture Interpretation
      • Elements of Mixture Interpretation
      • Resources and Guidance on Mixture Interpretation
      • Complicating Factors in Mixture Deconvolution
    • Chapter 7. Low-Level DNA and Complex Mixtures
      • Interpretation Challenges with Low Template DNA
      • Low-Quantity and Low-Quality DNA
      • Probabilistic Genotyping
      • High-Density SNP Arrays?
      • More Poor-Quality Samples Being Submitted
      • A Complexity Threshold?
    • Chapter 8. Troubleshooting Data Collection
      • Introduction
      • Principles and Processes Involved with Capillary Electrophoresis
      • Instrument Maintenance & Common Problems
      • Recommended Steps for Troubleshooting
      • Summary
  • Section II. Statistical Interpretation
    • Chapter 9. Statistical Interpretation Overview
      • Role of Statistics in Forensic DNA
      • Probability
      • Statistics
    • Chapter 10. STR Population Data Analysis
      • Introductory Genetic Principles
      • Population Data
      • Genetic Models and Formulas
      • Practical Considerations
      • Summary
    • Chapter 11. DNA Profile Frequency Estimates and Match Probabilities
      • Introduction
      • Profile Frequency Estimate Calculations
      • Likelihood Ratio
      • Source Attribution
      • Issues with DNA Profile Frequency Estimates
      • Summary
    • Chapter 12. DNA Mixture Statistics
      • Introduction
      • Different Statistical Approaches to Mixture Interpretation
      • Reporting Match Probabilities on Deduced Components
      • Random Man not Excluded (RMNE)
      • Likelihood Ratios
      • Additional Topics
    • Chapter 13. Coping with Potential Missing Alleles
      • Introduction to the Problem
      • Probabilistic Genotyping – A Way Forward
    • Chapter 14. Relationship Testing: Kinship Statistics
      • Introduction
      • Parentage Testing
      • Mutations and Mutation Rates
      • Other Topics with Parentage Testing
      • Missing Persons & Disaster Victim Identification
      • Complex Kinship Analysis
    • Chapter 15. Lineage Marker Statistics
      • Lineage Marker Inheritance Patterns
      • Guidance on Interpretation
      • Generating Lineage Marker Haplotypes
      • Population Databases for Lineage Markers
      • Genetic Models and Reporting
      • Summary Thoughts
    • Chapter 16. Laboratory Reports: Communicating Results and Conclusions
      • Introduction
      • Drawing Conclusions
      • Report Writing
      • Report & Case Review
      • Report Release
      • Report Comprehension and Potential Misuse
      • Summary
  • Appendix 1. STR Allele Frequencies from U.S. Population Data
  • Appendix 2. NRC I & NRC II Recommendations
  • Appendix 3. DAB Recommendations on Statistics
  • Appendix 4. Worked Mixture Example
  • Index


No. of pages:
© Academic Press 2014
28th July 2014
Academic Press
Hardcover ISBN:
eBook ISBN:

About the Author

John Butler

John Butler

John M. Butler is a NIST Fellow and Special Assistant to the Director for Forensic Science, Office of Special Programs, at the U.S. National Institute of Standards and Technology, in Gaithersburg, Maryland. Dr. Butler earned his PhD from the University of Virginia while doing DNA research in the FBI Laboratory's Forensic Science Research Unit. He has won numerous scientific awards, including being named Science Watch’s #1 world-wide high-impact author in legal medicine and forensic science over the last decade (July 2011). He has over 150 publications in this field and is a frequent presenter on the topic of DNA typing, and has authored four other DNA Typing books including Advanced Topics in Forensic DNA Typing: Methodology. For a detailed CV, visit

Affiliations and Expertise

National Institute of Standards and Technology (NIST), Gaithersburg, MD, USA


"As a communicator and researcher engaged forensic DNA analyses, John Butler is at the pinnacle of his profession. As with the previous two volumes in this series, Butler leaves no stone unturned in the clarity of his A to Y coverage of forensic DNA interpretation. This book is bound to find its way onto the fingertips of practitioners, attorneys, and students." --Richard Saferstein, Ph.D., Chief Forensic Scientist (Retired)

"…It is an excellent companion to his prior book on methodology, providing important information on interpretation of results… The book should prove valuable to all people involved in processing and interpreting results used in forensic genetics and criminal investigation." -- Bruce McCord, Ph.D., Professor, Florida International University

"Advanced Topics in DNA Typing/Interpretation is Dr. John Butler’s best book yet in his critically acclaimed series of DNA text books..." --Stephen Patrick Hogan Adjunct Associate Professor of Biological Science and Criminal Justice, State University of New York at Albany

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