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"Biological identikit": development of a SNPs-Panel for the analysis of Forensic DNA Phenotyping and Ancestry
Personal identification in mass disasters and in crimes is essential for humanitarian, ethical and legal reasons. In these contexts, when individuals cannot be identified by standard forensic DNA analysis, the Forensic DNA Phenotyping and the analysis of the biogeographical ancestry could help. The aim of this study was to evaluate the potential of a new panel of 891 SNPs in predicting phenotypic traits and biogeographical origin to create a “biological identikit”. In addition to fresh biological material, old evidence found at the crime scene or extracted and long-term stored DNA were tested with 41 SNPs for phenotypi...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Giulia Sguazzi, Debora Varrone, Chiara Cirioni, Valentina Andrioletti, Pasquale Linarello, Luca Salvaderi, Flavia Lovisolo, Noemi Procopio, Fabiano Gentile, Anna Cherubini, Domenico Colloca, Alberto Marino, Sarah Gino Source Type: research

The Extent of STR Chimerism in Different Biological Samples Following Bone Marrow Transplantation: A Case Report
Biological samples recovered from recipients of allogeneic haematopoietic stem cell transplant (HSCT) contain genetic material from both donor and him/herself. This chimeric condition can greatly complicate analysis of a DNA evidence and undermine its power of discrimination, as the specimens could be mistakenly identified as a mixed sample when in fact it originated from a single person. Profiling reference samples could help clarify the profile anomalies, however, the degree of mixture between host ’s and donor’s genetic materials has been reported to vary depending on the tissue from which DNA were obtained. (Source...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Jittima Shotivaranon, Budsaba Rerkamnuaychoke, Achirapa Bandhaya Source Type: research

A method to enable forensic genetic genealogy investigations from DNA mixtures
The presence of more than one DNA contributor in an evidentiary sample may preclude attempts to use forensic genetic genealogy to develop an investigative lead. To address this issue, we developed a workflow for deconvolution of SNP mixtures into single source profiles that are suitable for matching against a genealogical database. Using the method, two-contributor DNA mixtures assayed using a commercial SNP typing kit can produce informative match results for both major and minor contributors. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Rebecca Mitchell, Sana Enke, Kim Eskey, Tracy Ferguson, Rebecca Just Source Type: research

HUMAN SEMEN STAIN ANALYSIS IN CASEWORK SAMPLE BY HRM-qPCR
This report aims to present the methodological strategy used in a criminal case of a home invasion where a t-shirt containing visible stains similar to human semen was found at the site. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: TLS Nogueira, L Alem, OCL Santos, ABR Gon çalves, AS Dias, DA Silva Source Type: research

Perspective on the use of Investigative genetic genealogy in Brazil
Since 2018, investigative genetic genealogy (IGG) has been used as a novel technology to solve cold cases. But IGG presents several ethical issues regarding privacy and regulation. IGG has never been used in Brazil although the number of direct-to-consumer (DTC) ancestry tests has been increasing and its users use open platforms in which IGG can be applied, such as GEDMatch, being susceptible to the same ethical problems as in those countries where IGG is being applied. We conducted an online survey with 166 clients of DTC ancestry tests (DTC) and 35 Brazilian CODIS Administrators (ADM) to evaluate their knowledge about th...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Pedro H.C. Bonamin, Carlos E.M. Medeiros, Cintia Fridman Source Type: research

Discrete Laplace as Applied to the SWGDAM-Compliant U.S. Subpopulations in the Y Chromosome Haplotype Reference Database
Late in 2021, the Y Chromosome Haplotype Reference Database (YHRD) added the capability to perform discrete Laplace statistical calculations on searches performed against their SWGDAM-compliant U.S. subpopulations. Because discrete Laplace is not a commonly used or reported statistic in the United States, the SWGDAM Lineage Marker Committee, responsible for maintaining the SWGDAM Interpretation Guidelines for Y-Chromosome STR Testing, evaluated the feature to assess its ease of use and applicability to U.S. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Brandon Letts, Steven Myers, Christopher Askew, Suzanne Barritt-Ross, Ann Marie Gross, Dixie Peters, Lutz Roewer, Jeanette Wallin, Sascha Willuweit Source Type: research

How frequently are Autosomal and X-STRs multistep mutations perceived as single-step?
Short tandem repeats (STRs) incur in length mutations that involve the loss or gain of repeats. STR mutation rates are usually estimated considering the rates of observed Mendelian incompatibilities in one generation familial configurations. When considering multistep mutations, for the autosomal and X-chromosomal modes of genetic transmission, underestimations are inevitable when using this approach (MIA), due to the occurrence of mutational events deceptively perceived as involving fewer steps. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Sofia Ant ão-Sousa, Eduardo Conde-Sousa, Leonor Gusmão, António Amorim, Nádia Pinto Source Type: research

Y-chromosomal kinship estimation for forensic familial searching: YMrCA to the rescue
The Y-chromosome can be used as an identification method to find paternally related males of the perpetrator. When a close Y-haplotype match is identified, the time to their most recent common ancestor (tMRCA) needs to be estimated to reconstruct their genealogy. To date, two mutation models and three online tMRCA calculators exist. But, they do not include individual mutation rates with multi-step changes, while ignoring hidden multiple, back or parallel modifications. To improve tMRCA estimation, we developed a user-friendly calculator, the ‘YMrCA’, including all previously mentioned mutation characteristics. (Source...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Sofie Claerhout, Simon Vanpaemel, Mandev S. Gill, Guy Baele, Ronny Decorte Source Type: research

The Microbiome Forensics Database UZH
Microbial communities in biological stains can provide valuable information to assist forensic scientists identify the body fluid/tissue present in these. As these microbial communities are characteristic of body habitats, DNA sequencing of microbes can be used to predict bodily origin. Promising predictive results have been obtained with supervised machine learning algorithms trained on bacterial abundance data from human body sites. Importantly, prediction accuracy is dependent on the training dataset, yet compiling a large and comprehensive training reference is a non-trivial issue requiring substantial efforts. (Source...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Natasha Arora, Jo ão F. Matias Rodrigues, Meghna Swayambhu, Pim Witlox Source Type: research

Predicting the optimal STR profile amplification set up from QuantifilerTM Trio data
Samples collected for forensic case work may be of varying quality and quantity. The sample DNA is often quantified prior to short tandem repeats (STR) profile analysis with methods such as Quantifiler ™Trio (QFT). The QFT measures the quantity of DNA as well as an internal PCR control (IPC) and a degradation index (DI).The aim of this study was to use IPC and DI measurements to identify samples, which would benefit from a modified PCR amplification set-up when generating the STR profiles. The s ample quality of 6287 single source case work samples were categorized as 'Good’, ‘Partly degraded’, ‘Highly degraded...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Mikkel E. Dupont, Marie-Louise Kampmann, Ditte M. Truelsen, Cathrine B. Petersen, Jeppe D. Andersen Source Type: research

Weight of evidence from mRNA data: implementation of an LR-system for forensic body fluid identification in casework
After developing an LR-system to calculate weight of evidence from mRNA data [1] we here present how this LR-system is used in forensic casework. We aim to convey the weight of the evidence in forensic reports. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: M. Van den Berge, P.A. Maaskant-Van Wijk, T. Sijen, S. Van Soest, R.J.F. Ypma Source Type: research

The paternal heritage of self-declared Ecuadorian indigenous people
The present study aimed to characterize the paternal genetic composition of the Ecuadorian indigenous population. To investigate a possible matting bias, AIM-InDels were also analyzed. The population sample of 54 self-declared Ecuadorian indigenous presented a high haplotype diversity. A major proportion of the male lineages belong to Native American haplogroups. Although from self-declared indigenous, the studied population sample presented a low genetic distance with a sample of admixed individuals from Ecuador. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Masinda Nguidi, Rodrigo Flores, Julyana Ribeiro, Alejandra Garz ón, Manuel Calvopiña, Sonia Zapata, Alejandro Cabrera, Ignacio Yepez, Verónica Gomes, Leonor Gusmão, Germán Burgos Source Type: research

DNA databases as a tool to improve the search for missing persons in Brazil
In 2019, based on the publication of Law No. 13,812/2019, the National Policy on the Search for Missing Persons was created in Brazil. In this context, on March 2, 2020 the Steering Committee of the Integrated Network of DNA Databases (RIBPG) created the Working Group on Genetic Identification of Missing Persons. In 2021, the first National Campaign for the Collection of DNA from Relatives of Missing Persons was launched. This action provided the collection of relatives of more than 1700 missing people throughout Brazil. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Ronaldo C. Silva Junior, Laryssa S.A. Bezerra, Cec ília H.F. Matte, Selma L.S. Sales, Elza C.L. Oliveira, Laiana S. Beltrami, Bruno D.S. Morais, Vivian Altmann, Patrick B. Mallmann, Ethienne T. Figueiredo, Marcelo P. Mendes, Aline C. Minervino, Guilherme Source Type: research

Experimental long-distance haplotyping of OCA2-HERC2 variants
The regulatory HERC2 SNP, rs12913832, is strongly associated with blue and brown eye colour. However, eye colour in heterozygous rs12913832 individuals is observed to vary greatly. Missense mutations in OCA2, such as rs1800407 and rs74653330, are associated with lighter eye colour in some but not all heterozygous rs12913832 individuals. Determining the physical linkage of these variants might help to further explain eye colour variation. So far, experimental haplotyping of these variants has been challenging because the genomic distance between them (~ 135kb) exceeds the fragment lengths produced by commonly used DNA isola...
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Nina Mj ølsnes Salvo, Marie Gule Mathisen, Kirstin Janssen, Thomas Berg, Gunn-Hege Olsen Source Type: research

Towards localizing head shots – Forensic Sub-Differentiation of Anatomical Brain Regions by differential RNA expression
The detection of organ tissues, including brain, in even challenged forensic sample material by forensic RNA analysis has become a valid and routinely used method of trace contextualization.However, in cases of severe head traumas dealt by blunt impacts or firearm projectiles, for example in situations when multiple offenders handled different weapons, it can be beneficial for criminal investigations to determine by analysis of traces of biological material which area of the head had been hit (and by whom) by proxy of detecting which part of the brain had been injured. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 18, 2022 Category: Forensic Medicine Authors: Jan Euteneuer, Lucas Moitinho-Silva, Cornelius Courts Source Type: research