genes
G C A T
T A C G
G C A T
Editorial
Special Issue “Forensic Genetics and Genomics”
Emiliano Giardina
1,2,
* and Michele Ragazzo
1
Citation: Giardina, E.; Ragazzo, M.
Special Issue “Forensic Genetics and
Genomics”. Genes 2021, 12, 158.
https://doi.org/10.3390/genes
12020158
Academic Editor: J. Peter W. Young
Received: 17 January 2021
Accepted: 23 January 2021
Published: 25 January 2021
Publisher’s Note: MDPI stays neutral
with regard to jurisdictional claims in
published maps and institutional affil-
iations.
Copyright: © 2021 by the authors.
Licensee MDPI, Basel, Switzerland.
This article is an open access article
distributed under the terms and
conditions of the Creative Commons
Attribution (CC BY) license (https://
creativecommons.org/licenses/by/
4.0/).
1
Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy;
michele.ragazzo@uniroma2.it
2
Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy
* Correspondence: emiliano.giardina@uniroma2.it
The technological and scientific progress that we have experienced in recent years
has contributed to characterization of the complex processes underlying human biology
and evolution. In this regard, the studies performed on humans, both in pathological
and physiological conditions, have been fundamental to improving knowledge of how
genes, epigenetic modifications, aging, nutrition, drugs, and the microbiome affect the
state of health and influence the onset of diseases [1]. Furthermore, it has been possible
to identify several genes and/or variants responsible for variability in the response to
pharmacological treatments in terms of safety and efficacy [1].
From a forensic field application point of view, the technological progress undergone
by biology has allowed the development of innovative tools for scientific investigation.
DNA analysis is no longer solely for comparative use but also for investigative use. In the
last 30 years, alongside the development of increasingly sensitive techniques capable of
typing biological samples consisting of even only a small number of cells, protocols and
software have been developed for the interpretation of predictive markers of phenotypic,
ancestral characteristics, and for the biostatistical evaluation of evidence [2,3].
The Special Issue “Forensic Genetics and Genomics” focuses on the latest scientific
achievements in the field of forensic biology, from the introduction of new technologies
allowing DNA analysis at crime scenes to the use of big data from genome sequencing stud-
ies and the study of population genetics for the development of protocols with investigative
and phylogenetic purposes.
This Special Issue features eleven high-impact scientific articles. One of the most up-
to-date issues is the possibility of analyzing DNA directly at the crime scene. A drawback
of current forensic DNA technology is the need for cumbersome equipment, making
it difficult to operate outside the laboratory environment. Transitioning forensic DNA
analysis from the laboratory to the scene of an incident should deliver wide-ranging
benefits in terms of the speed of result delivery, reduced contamination risk, and more
efficient staff training [4,5]. Oxford Nanopore Technologies (ONT) developed the MinION,
a long-read sequencer powered by USB. Its small size and portability make it ideal for
remote analysis [4].
The article Nanopore Sequencing of a Forensic STR Multiplex Reveals Loci Suitable for Single-
Contributor STR Profiling explores the possibility of using this new technology in detail,
highlighting its current limitations though also proposing short-term solutions that could
allow partial rapid application [4]. While the authors confirm that the technology is not
ready, at this point, for immediate application in routine use, they have identified STR loci
that ensure precise nanopore STR sequencing. Some characteristics such as repeat number,
repeat pattern complexity, flanking region sequence, and the presence of homopolymers
strongly influence successful genotyping. As a result, it was possible to design an STR
panel that could be typed via nanopore sequencing, although further studies will be needed
to validate this technology [4].
Continuing the topic of on-site genetic analysis, the work of Ragazzo M et al. Compar-
ative Analysis of ANDE 6C Rapid DNA Analysis System and Traditional Methods compares the
Genes 2021, 12, 158. https://doi.org/10.3390/genes12020158 https://www.mdpi.com/journal/genes