Genetic Identification of Missing Persons: DNA Analysis of Human Remains and Compromised Samples

Abstract

Human identification has made great strides over the past 2 decades due to the advent of DNA typing. Forensic DNA typing provides genetic data from a variety of materials and individuals, and is applied to many important issues that confront society. Part of the success of DNA typing is the generation of DNA databases to help identify missing persons and to develop investigative leads to assist law enforcement. DNA databases house DNA profiles from convicted felons (and in some jurisdictions arrestees), forensic evidence, human remains, and direct and family reference samples of missing persons. These databases are essential tools, which are becoming quite large (for example the US Database contains 10 million profiles). The scientific, governmental and private communities continue to work together to standardize genetic markers for more effective worldwide data sharing, to develop and validate robust DNA typing kits that contain the reagents necessary to type core identity genetic markers, to develop technologies that facilitate a number of analytical processes and to develop policies to make human identity testing more effective. Indeed, DNA typing is integral to resolving a number of serious criminal and civil concerns, such as solving missing person cases and identifying victims of mass disasters and children who may have been victims of human trafficking, and provides information for historical studies. As more refined capabilities are still required, novel approaches are being sought, such as genetic testing by next-generation sequencing, mass spectrometry, chip arrays and pyrosequencing. Single nucleotide polymorphisms offer the potential to analyze severely compromised biological samples, to determine the facial phenotype of decomposed human remains and to predict the bioancestry of individuals, a new focus in analyzing this type of markers.

Relationship Estimation from Whole-Genome Sequence Data

“…Population genetics studies typically must either explicitly account for familial relationships [3], or else exclude related individuals from analyses that rely on random mating and representative sampling assumptions [4]. Genetic relationship identification is also widely used in a number of forensic applications, including criminal investigations, identification of missing persons and victims of mass disasters [5], [6].…”

PADRE: Pedigree-Aware Distant-Relationship Estimation

“…6 Genetic relationships identified in population studies can be leveraged for improved haplotype phase inference, detection of population structure, genotype imputation, and study designs such as identical-by-descent (IBD) mapping and tests to detect multiple rare and common variants that contribute to disease. [7][8][9][10][11][12][13] The identification of relatives also plays an important role in forensics in criminal investigations, 14 identification of victims of mass disaster, 15 and discovery of family history.…”

Optimized DNA extraction method from skeletal remains using different typing methodologies in forensics

“…In the forensic area DNA typing is usually based on STR polymorphisms [1,2], but sometimes poorly preserved and exiguous human remains are everything available [3]. When dealing with victims of mass disasters such as terrorist attacks or war crimes, that is a common scenario [3,4,5].…”

“…When dealing with victims of mass disasters such as terrorist attacks or war crimes, that is a common scenario [3,4,5]. Such limitations demand the development of optimized DNA extraction methodologies, with high throughput [6].…”