The fundamental goal of forensic genetics is personal identification but it is common to obtain inconclusive results from both direct and indirect STR-profile comparisons. In such cases, it is necessary looking for alternative approaches to generate crucial forensic leads and identify unknown perpetrators. In this thesis, we propose alternative tools to predict BioGeographical Ancestry (BGA) and to identify males sharing the same Y-haplotype by utilizing multivariate techniques and Rapidly Mutating Y-chromosome short tandem repeats(RM Y-STRs), respectively. Concerning ethnic inference, we proposed novel statistical approaches (consisting in SLPCA, PLSDA and SVM methods) to group samples into BGA-classes, by testing both autosomal STRs (in African populations) and microhaplotypes (in U.S. populations). The predictive power of such statistics resulted extremely high; in fact, they enhance cluster separation providing misleading classifications for genetically mixed populations only. As to Y haplotype discrimination improvement, we proved the efficiency in individualization power of RM Y-STRs – reaching a total of 48 markers genotyped – in African populations characterized by high levels of endogamy, patrilinearity and population structuring. Together, these two innovative approaches converge in demonstrating they represent powerful tools to maximize the information inferable from biological evidence collected at the crime scene.
Investigative leads in forensic genetics: Biogeographical Ancestry (BGA) and Kinship Analyses / DELLA ROCCA, Chiara. - (2023 Mar 22).
Investigative leads in forensic genetics: Biogeographical Ancestry (BGA) and Kinship Analyses
DELLA ROCCA, CHIARA
22/03/2023
Abstract
The fundamental goal of forensic genetics is personal identification but it is common to obtain inconclusive results from both direct and indirect STR-profile comparisons. In such cases, it is necessary looking for alternative approaches to generate crucial forensic leads and identify unknown perpetrators. In this thesis, we propose alternative tools to predict BioGeographical Ancestry (BGA) and to identify males sharing the same Y-haplotype by utilizing multivariate techniques and Rapidly Mutating Y-chromosome short tandem repeats(RM Y-STRs), respectively. Concerning ethnic inference, we proposed novel statistical approaches (consisting in SLPCA, PLSDA and SVM methods) to group samples into BGA-classes, by testing both autosomal STRs (in African populations) and microhaplotypes (in U.S. populations). The predictive power of such statistics resulted extremely high; in fact, they enhance cluster separation providing misleading classifications for genetically mixed populations only. As to Y haplotype discrimination improvement, we proved the efficiency in individualization power of RM Y-STRs – reaching a total of 48 markers genotyped – in African populations characterized by high levels of endogamy, patrilinearity and population structuring. Together, these two innovative approaches converge in demonstrating they represent powerful tools to maximize the information inferable from biological evidence collected at the crime scene.File | Dimensione | Formato | |
---|---|---|---|
Tesi _dottorato_DellaRocca.pdf
accesso aperto
Note: Investigative leads in forensic genetics: Biogeographical Ancestry (BGA) and Kinship Analyses
Tipologia:
Tesi di dottorato
Licenza:
Tutti i diritti riservati (All rights reserved)
Dimensione
1.4 MB
Formato
Adobe PDF
|
1.4 MB | Adobe PDF | |
Tables.xlsx
accesso aperto
Note: Tables
Tipologia:
Altro materiale allegato
Licenza:
Tutti i diritti riservati (All rights reserved)
Dimensione
24.28 kB
Formato
Microsoft Excel XML
|
24.28 kB | Microsoft Excel XML | |
Supplementary Tables.xlsx
accesso aperto
Note: Supplementary Tables
Tipologia:
Altro materiale allegato
Licenza:
Tutti i diritti riservati (All rights reserved)
Dimensione
342.81 kB
Formato
Microsoft Excel XML
|
342.81 kB | Microsoft Excel XML |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.