State-of-the-Art in Forensic Genetics Volume II

Dear Colleagues,

Since its first use 35 years ago, the field of forensic genetics has undergone many advancements in knowledge and technology, resulting in faster results, a higher sensitivity and information content, and stronger conclusions, mostly for challenging specimens.

Great improvements in DNA extraction methods have been observed, especially through the introduction of robotic workstations. Automation is now also involved in all laboratory steps through the development of rapid and portable fully automated DNA-profiling systems, which allow results in less than 90 min and also immediately at the crime scene.

A higher information content in forensic DNA analysis has been achieved using expanded sets of core STR loci and deeper information from the sequence analysis of alleles. Several SNP panels for different purposes, as well as novel types of molecular markers, such as the microhaplotype loci that are useful for individual identification, ancestry inference, estimating relationships, and deconvoluting mixtures, have been developed. Supplemental genetic markers that are not only related to personal identification and parental testing but also to other important issues, such as body fluid identification, postmortem interval (PMI) estimation, and forensic DNA phenotyping for investigative purposes (appearance, age, and biogeographic prediction), have been introduced into forensic practice.

Mitochondrial DNA polymorphisms have been widely used in addition to nuclear STR loci, especially for challenging forensic samples. Among the new technologies introduced in recent years, massive parallel sequencing (MPS) has had a great impact on the forensic field, both in terms of data quantity and of the type of markers and allele discrimination.

In addition, non-human DNA has demonstrated its utility in the forensic field. Microbioma analysis may aid investigations, allowing the discrimination of environmental samples, postmortem interval estimation (PMI), geolocation, non-sterile body fluid and tissue characterization, and human identification.

Strong improvements have been made in the last years with respect to improving the ability to decipher and interpret all data obtained from DNA analysis, and this not only remains the greatest challenge but also provides the most exciting opportunities for future advances in forensic DNA analysis. Probabilistic approaches are constantly under development, not only for the statistical evaluation of a genetic profile match and a complex DNA mixture but also for familial searching, and they are useful for finding close relatives and for the prediction of age, external visible traits, and PMI. Moreover, particular attention has been paid to the relevance of DNA evidence in relation to an activity, and much progress has been made in the evaluation of biological traces, considering activity level propositions.

The aim of this Special Issue is to illustrate the principal advancements in the forensic genetic field, both in terms of the research efforts and of casework and current practice, by covering all the laboratory steps related to obtaining DNA profiles and data interpretation.

Dr. Chiara Turchi
Guest Editor

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• forensic genetic
• DNA profiling
• short tandem repeats
• mitochondrial DNA
• DNA phenotyping
• massive parallel sequencing
• SNPs
• forensic DNA extraction
• DNA quantification
• individual identification
• parentage testing
• activity level evaluation
• molecular autopsy