Chapter 22 - Genomic Applications in Forensic Medicine

Abstract

Since the 1980s, advances in DNA technology have revolutionized the scope and practice of forensic medicine. From the days of restriction fragment length polymorphisms (RFLPs) to short tandem repeats (STRs), the current focus is on the next generation genome sequencing. It has been almost a decade since the first next generation sequencing (NGS) technologies emerged and quickly changed the way genetic research is conducted. Today, full genomes are mapped and published almost weekly and with ever-increasing speed and decreasing costs. NGS methods and platforms have matured since 2005 and the quality of the sequences has reached a level where NGS is used in clinical diagnostics of humans. Forensic genetic laboratories have also explored NGS technologies and especially recently, there has been a small explosion in the number of scientific articles and presentations at conferences with forensic aspects of NGS. These contributions have demonstrated that NGS offers new possibilities for forensic genetic case work. More information may be obtained from unique samples in a single experiment by analyzing combinations of markers [STRs, single nucleotide polymorphisms (SNPs), insertion/deletions (indels), messenger RNA (mRNA)] that cannot be analyzed simultaneously with the standard polymerase chain reaction–capillary electrophoresis (PCR-CE) methods used today. The true variation in core forensic STR loci has been uncovered and previously unknown STR alleles have been discovered. The detailed sequence information may aid mixture interpretation and will increase the statistical weight of the evidence. In this chapter, we provide an overview on conventional DNA diagnostics and the possible applications of single cell sequencing and NGS in forensic medicine.