170 research outputs found
Inferring the Weight of Evidence from two-person mixtures when explored by Y-chromosome haplotypes
No full textIn recent decades, the improvement in the sensitivity of commercial kits used for the amplification of genetic markers in forensic work, together with the increase in the complexity of the cases dealt with, has led to an increase in the number of mixed traces submitted to the forensic expert for analysis as a model of evidence in molecular investigations aimed at criminal identification.
The interpretation of mixed traces analyzed by autosomal markers has been an intensively studied field, and at least two computational methods are now available to the expert: qualitative (semi-continuous) and quantitative Bayesian (continuous). A good assortment of application software inspired by these principles is also available today, with products that can be purchased commercially or acquired as free shareware (for example, LRmix Studio, EuroForMix, CaseSolver, etc.). Some of these software are surveyed and, to some extent, approved by the International Society of Forensic Genetics.
However, what still makes the theoretical and application landscape on the subject of mixed traces unsatisfactory is the almost total absence of principles and analysis methods that can be applied to the field of markers located on the Y chromosome (Y-Chr).
In this context, the main problems that make theoretical elaboration and interpretative progress complex are as follows:
• The Y-Chr is theoretically inherited en bloc, and the presence of haplotypes makes extrapolating population frequency data that can be integrated into individualization calculations challenging;
• A unique haplotype frequency calculation model does not yet exist;
• The approach to the identification of all possible combinations resulting from a mixed profile has to deal with the construction of pairs, triplets, quadruplets, etc. (in the case of mixtures with two, three, and four contributors, respectively) of haplotypes (and not of single genotypes);
• Many haplotypes generated by an albeit correct haplotype combinatorial process may never have been detected in the population surveys carried out by the laboratories; therefore, their existence may legitimately be questioned;
• Solutions for the deconvolution of Y-STRs (Short Tandem Repeats) mixtures are still practically non-existent.
This work aims to illustrate a computational procedure to extract and evaluate the Power of Evidence (WoE) in biological mixtures corresponding to the two contributors' model, studied employing a genetic marker protocol on the Y-Chr.
In this study, the Y-STRs mixtures are represented with genotype permutation universal matrices, which include several columns equivalent to the number of putative contributors and many rows/states comparable to the number of different permutations incorporating the evidence. After the matrices' construction, a calculation method was proposed based on the assumption of measurable quantities, gene frequencies assumed to be all available, and no drop-out. The three independent indices (Peak Height ratio, Mix Ratio, and χ2) were modelled, and a specific description of how they were calculated is given in the manuscript.
The theoretical development of this work was described following the two contributors – ten loci model; practical calculation examples helpful in testing the effectiveness of the method developed were then described using the two contributors – seven loci model, due to the low data processing capacity of the personal computers used in this work.
The spreadsheets developed in Microsoft Excel, relating to matrix construction and calculation of the Likelihood Ratio, are user-friendly and accessible for reference upon explicit request to the Authors
Validation of the investigator argus y-28 qs kit on the seqstudioTM genetic analyzer for hid: a new panel file for genemapper id-x software v1.6
No full textBackground: The Investigator Argus Y-28 QS Kit is a 27-locus, six-dye multiplex, which includes six rapidly mutating Short Tandem Repeats (RM Y-STRs). Methods: A new text file containing the optimized panel and bin sets for GeneMapper ID-X Software v1.6 has been prepared. In addition, an internal validation study was conducted on the Investigator Argus Y-28 QS kit using the SeqStudioTM Genetic Analyzer for HID. Results: The full results of that study are presented here, including data on precision, sensitivity, reproducibility, stutter determination, and reduction volume analysis. A concordance study and three case reports are documented. Finally, the kit was successfully used to conduct a proficiency test. Conclusions: The obtained findings achieved a satisfactory performance of the Investigator Argus Y-28 QS Kit on the SeqStudioTM Genetic Analyzer for HID
Forensic assessment on the application of a virtual pool of 30 Y-STRs
No full textIdeally, a panel of Y short tandem repeats (Y-STRs) should include markers with gene diversity (GD) ≥ 0.70 to guarantee a highly accurate and precise individual identification in all forensic situations where Y loci analysis is necessary to support the findings obtained with autosomal STRs. Since not all markers in a multiplex set reach the optimal GD value, to achieve a greater discrimination capacity (DC), the number of Y-STRs has been grad ually expanded also with the addition of rapidly mutating Y-STRs (RM Y-STRs). The present study has tried to assess, based on the genetic diversity of each Y-STR and the cumulative haplotype diversity provided by the single Y-STR panels tested, whether to increase in the number of Y-STRs is effective. For this purpose, three commercially available forensic kits - the PowerPlex® Y23 System, the YfilerTM Plus PCR Amplification Kit, and the ForenSeqTM DNA Signature Prep Kit - that allow for the simultaneous analysis of 22–25 Y chromosome markers (including Y-STRs and RM Y-STRs) have been used for typing 115 unrelated male individuals from North-East Italy employing two capillary electrophoresis (Applied Biosystems® 3130 Genetic Analyzer and SeqStudio Genetic Analyzer for HID) and one massively parallel sequencing (MiSeq FGxTM Forensic Genomics System) systems. Forensic parameters, such as gene diversity, cumulative haplotype diversity (cHD), and discrimination capacity, were determined for the three Y-STRs kits and the virtual pool of 30 Y-STRs obtained by the overall combination of the Y-loci of the three kits. From the findings, it emerges that twelve markers in the virtual panel of 30 Y-STRs, are characterized by a value of GD ≥ 0.70, and of these, eleven included in the YfilerTM Plus kit seem to be sufficient to ensure the achievement of haplotype resolution. In light of this, it does not appear necessary to expand the number of Y-STRs in the currently available kits
Trisomy 21 disclosure using STR and SNP markers typed by MiSeq FGxTM Forensic Genomics System
No full textThe presence of a tri-allelic pattern at a single locus in a multiplex short tandem repeat (STR) profile is a rarely observable event. Generally, based on peak height measured by the capillary electrophoresis (CE) method and combination of alleles, the tri-allelic pattern is distinguishable into two predominant types: type 1 and 2, which are caused, respectively, by somatic mutations and chromosomal rearrangements. When tri-allelic patterns at more than one STR located on the same chromosome are detected, there is a reasonable suspicion of a trisomy due to an extra copy of a chromosome. Therefore, information on the type of three-band pattern is usually limited to STRs localized on the same chromosome included in the forensic kit in use and sometimes in insufficient numbers to classify this event correctly. The opportunity to extend this evaluation to additional markers, such as SNPs detectable using NGS, has not yet been explored. In this study, using the ForenSeqTM DNA Signature Prep kit, two cases of autosomal aneuploidy were revealed on chromosome 21, relying not only on STRs assessment but also extending the analysis to the five identity-informative single nucleotide polymorphisms (iiSNPs) localized on chromosome 21
Un film fuori tempo e oltre la norma
No full textUtilizzando fonti d'archivo, in particolare la banca dati del progetto di ricerca "I cattolici e il cinema in Italia dagli anni '40 agli anni '60", il saggio ricostruisce la filiera realizzativa del film che Mario Soldati trasse dal romanzo omonimo di Fogazzaro, "Daniele Cortis" (1947), prodotto da Salvo d'Angelo per la Universalia. Nonostante la gravitazione in orbita vaticana e le oculate direttive del CCC, lo spirito libero di Soldati si mantiene fedele solo a se stesso, anche nella personale opzione estetica, lontana ed estranea all'imperante orientamento neorealista. Riguardato nel tempo ampio della lunga durata e della comune appartenenza al melodramma cinematografico, il film presenta alcuni punti di contatto con "Senso" di Luchino Visconti. L'analisi narratologica comparata pone in luce singolari analogie non solo tra le protagoniste dei rispettivi film, ma anche tra i comprimari, come la figura viscontiana di Franz e il Barone di Santa Giulia nel film di Soldati, personaggio tanto detestato dagli Enti produttivi ecclesiatici quanto amato dal regista
Affitto di azienda alberghiera, rinegoziazione del contratto e tutela cautelare ai tempi del Covid-19
No full textL’articolo esamina gli effetti giuridici della pandemia di Covid-19 sull’affitto di azienda alberghiera, sulla base di una sentenza del Tribunale di Rimini. In particolare, l’Autore compie un’analisi approfondita della dottrina e della giurisprudenza in materia per giungere ad affermare che non sussiste alcun obbligo
di rinegoziazione del contratto le cui obbligazioni siano state lese dal factum principis in quanto il legislatore intervenuto con provvedimenti specifici per
riequilibrare il sillagma contrattuale.– The article examines the legal effects of the Covid-19 pandemic on the hotel business lease, based on a ruling by the Rimini court. In particular,
the Author carries out an in-depth analysis of the doctrine and jurisprudence on the subject to arrive at affirming that there is no obligation to renegotiate the contract whose obligations have been affected by the factum principis since the legislator has intervened with specific measures to rebalance the contractual synallagm
L’ingiustizia militare nella Grande guerra. Le fucilazioni ‘per l’esempio’ in Friuli e nella Venezia Giulia
No full textDurante la Prima guerra mondiale l’esercito italiano ha registrato un alto numero di fucilazioni sommarie e decimazioni ‘per l’esempio’.
A differenza di altri Paesi, i soldati condannati ingiustamente o illegittimamente alla pena capitale, in Italia non hanno ottenuto alcuna forma
di riabilitazione nazionale. Solo nel maggio del 2021 il Consiglio della Regione autonoma Friuli Venezia Giulia ha approvato all’unanimità una legge per la riabilitazione storica dei soldati «condannati alla fucilazione dai tribunali militari di guerra» nel territorio dell’attuale Regione e ha istituito una Consulta storica. Il volume raccoglie gli interventi presentati nel corso del Convegno di studi tenutosi a Udine l’11 novembre 2022. Partendo dai casi noti dei fusilâts di Cercivento e della decimazione di Santa Maria la Longa, intende fare il punto su questo nodo doloroso della storia italiana
Karst Landforms in Friuli Venezia Giula: From Alpine to Coastal karst.
No full textAround 20-25% of the Friuli Venezia Giulia region consists of karstified rocks. The geological, geographical and climatic conditions have given rise to a whole series of karst landscapes which have developed in different ways from each other on limestone of different ages, located at different altitudes. One encounters splendid examples of alpine karst (Mt. Canin and Cansiglio-Cavallo Massif), mountain-hill karst (Mt. Ciaurlec, Julian Prealps) and marine coastal karst. In the Classical Karst near Trieste, the worldwide symbol of karst phenomena, over 3,000 caves are known while half a dozen are over 1,000 m in length. There are about eighty solution and collapse dolines with a diameter greater than 100 m
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