The Use of “Omics” in Next Generation SNP Analysis: Future of Forensic Phenotyping




Harrif, Khatera Noor

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When a crime occurs, investigators collect samples from the crime scene and interview witnesses to learn the External Visible Characteristics (EVCs) of the suspect. This EVC includes the hair color, eye color and skin color of the suspect and lead investigators to develop a profile. One type of sample often collected at crime scenes is DNA. Genetic Typing, or DNA profiling of an individual's identity, has proven a powerful tool. DNA profiles generated are uploaded in established databases in hopes of finding a match. However, this type of traditional genetic profiling has several important drawbacks. First, it provides no information about the suspect‟s EVC or phenotypic profile. Furthermore, it requires a DNA sample from the suspect in order to compare with the DNA sample from the crime scene. If no sample can be obtained or no match is made after testing, this typically leads to a case turning “cold”. But what if scientists were able to generate a phenotypic profile or EVCs of the suspect, using the minute amount of DNA often left at the crime scene? This would constitute a major breakthrough allowing investigators to narrow down the list of potential suspects. This project discusses the use of Phenotype Informative Simple Nucleotide Polymorphisms (PISNPs), SNPs that identify an individual's particular phenotype, such as skin color, hair color, and eye color. With recent advances in new gen “omics” technologies, such as Next and Third Generation Sequencing, an increasing number of applications in forensic phenotyping are becoming possible. These new powerful technologies require new approaches to quality control and bioinformatics – this will likely be a key aspect in the development of new PISNPs to further expand profiling. Though the idea and process of forensic phenotyping is still under development, ethical issues have been raised by privacy advocates. Such groups argue that phenotypic profiling is a violation of privacy. Despite such arguments, research in the field of PISNP is very promising and will have a tremendous impact in helping investigators reach accurate conclusions and prevent wrongful convictions.



Forensic Phenotyping, Next Generation Sequencing, External Visible Characteristics, Single Nucleotide Polymorphism, EVCS, SNP Analysis