Forensic Genetic Approaches for Identification of Human Skeletal Remains: Challenges, Best Practices, and Emerging Technologies

Forensic Genetic Approaches for the Identification of Human Skeletal Remains: Challenges, Best Practices, and Emerging T

Table of Contents:
1. Missing persons and unidentified human remains: The world’s silent mass disaster 2. Challenges in forensic genetic investigations of decomposed or skeletonized human remains: Environmental exposure, DNA degradation, inhibitors, and low copy number (LCN) I. Guidelines and best practices for handling and processing human skeletal remains for genetic studies 3. Facilities design and workflow considerations for processing unidentified human skeletal remains 4. Location, recovery, and excavation of human remains for forensic testing 5. Skeletal microstructure, bone diagenesis, optimal sample selection, and pre-processing preparation techniques for DNA testing 6. DNA extraction methods for human skeletal remains 7. Quantitative and qualitative assessment of DNA recovered from human skeletal remains II. Types of DNA markers and applications for identification 8. Autosomal short tandem repeat (STR) profiling of human 9. Y-chromosome analysis for unidentified human remains (UHR) investigations 10. Mitochondrial DNA and its use in the forensic analysis of skeletal material 11. X-chromosome short tandem repeats (X-STRs): Applications for human remains identification 12. Single nucleotide polymorphisms (SNPs): Ancestry-, phenotype-, and identity-informative SNPs 13. Diallelic Markers: INDELs and INNULs III. Traditional platforms, alternative strategies, and emerging technologies for DNA analysis of human skeletal remains 14. Genotyping and sequencing of DNA recovered from human skeletal remains using capillary electrophoresis (CE) 15. Rapid DNA identification of human skeletal remains 16. Emerging technologies for DNA analysis of challenged samples IV. Analysis of genetic data recovered from skeletonized human remains 17. Best practices in the development and effective use of a forensic DNA database for identification of missing persons and unidentified human remains 18. Software and database functionality for direct identification and kinship analysis: The Mass Fatality Identification System (M-FISys) 19. Bioinformatic tools for interrogating DNA recovered from human skeletal remains 20. The emerging discipline of forensic genetic genealogy V. Complementary and multidisciplinary approaches to assist in identification of unidentified human skeletal remains 21. Forensic anthropology in a DNA world: How anthropological methods complement DNA-based identification of human remains 22. Generation of a personal chemical profile from skeletonized human remains 23. Forensic odontology: Historical perspectives and current applications for identification of human remains 24. Forensic facial reconstruction of skeletonized and highly decomposed human remains

About the Author :
Dr. Angie Ambers is an internationally recognized DNA expert and Assistant Director of the Henry C. Lee Institute of Forensic Science, a world-class institute that specializes in interdisciplinary research, training, testing, casework consulting, and education in forensic science. Dr. Ambers also holds an Associate Professor (Forensic DNA) appointment in the Henry C. Lee College of Criminal Justice and Forensic Sciences at the University of New Haven, teaching forensic biology and DNA analysis methods, in addition to specialty courses on advanced DNA topics. She has a Ph.D. in molecular biology (with emphasis in forensic genetics and human identification) as well as master’s degrees both in forensic genetics and in criminology. She worked as a forensic geneticist for the University of North Texas (UNT) Center for Human Identification for 8 years and, prior to pursing her doctorate, was lead DNA analyst and lab manager of UNT's DNA Sequencing Core Facility. Her doctoral research involved an investigation of methods (e.g., whole genome amplification, DNA repair) for improving autosomal and Y-STR typing of degraded and low copy number (LCN) DNA from human skeletal remains and environmentally damaged biological materials. Her master’s thesis research included development and optimization of a DNA-based multiplex screening tool for genetics-based separation of fragmented and commingled skeletal remains in mass graves. In addition to skeletal remains cases and research, Dr. Ambers collaborated with the National Institute of Justice (NIJ) and the Forensic Technology Center of Excellence (FTCoE) to develop and disseminate a formal report on the use of Familial DNA Searching (FDS) in casework. She is an active cold case consultant, an advocate of post-conviction DNA testing, and an educator/advisor on DNA testing or re-testing of old, degraded, or challenging evidentiary samples. Dr. Ambers also was the 2017-2018 Project Lead on a U.S. State Department grant to combat human trafficking in Central America through the application of forensics. As part of the program objectives, she traveled to three Northern Triangle countries (Guatemala, El Salvador, Honduras) to perform gap assessments of government laboratories and train personnel in forensic DNA analysis, with the goal of promoting quality casework methods based on ISO 17025 standards. As Project Lead, she helped train forensic DNA scientists at the Instituto Nacional de Ciencias Forenses de Guatemala (INACIF, the National Institute of Forensic Sciences of Guatemala) in Guatemala City, Guatemala; the Instituto de Medicina Legal (Institute of Legal Medicine) in San Salvador, El Salvador; and the Instituto de Medicina Forenses: Centro de Medicina Legal y Ciencias Forenses (the Institute of Forensic Medicine: Center of Legal Medicine and Forensic Sciences) in Tegucigalpa, Honduras. In addition to providing both lecture and tactile training on DNA analysis methods to Northern Triangle laboratories, Dr. Ambers was part of a consortium to help these countries develop and maintain forensic DNA databases to assist in the identification of missing persons related to human trafficking. She continues to contribute to this cause as a team member of the University of New Haven’s Center for Forensic Investigation of Trafficking in Persons.