Developmental Validation of the EZ1 & 2 ™ DNA Investigator® Kit on the EZ2® Connect Fx
In this study, the performance of the EZ1&2 DNA Investigator Kit on the EZ2 Connect Fx was evaluated using typical casework sample types and conditions commonly encountered in forensic and parentage laboratories. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - December 4, 2022 Category: Forensic Medicine Authors: Mario Scherer, Daniele Terramagra, Amy Liberty, Anke Prochnow Source Type: research

Seven Years of SNPs: An Assessment of Methods Utilized for Generating Profiles for Forensic Genetic Genealogy
Over the past seven years, hundreds of cases have been processed with the goal of phenotyping, biogeographical ancestry, and/or forensic genetic genealogy (FGG) research. However, not all profiles developed were suitable for upload to public databases or for phenotype and ancestry estimations, while some poor-quality samples surprisingly were. The capabilities for FGG testing have grown in the past year and are still improving. This summary will serve to compare the results that can be expected from three very different DNA profiling systems; single nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), and ta...
Source: Forensic Science International: Genetics Supplement Series - December 3, 2022 Category: Forensic Medicine Authors: Rachel H. Oefelein Source Type: research

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Source: Forensic Science International: Genetics Supplement Series - December 1, 2022 Category: Forensic Medicine Source Type: research

Contents Continued
(Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - December 1, 2022 Category: Forensic Medicine Source Type: research

Proceedings of the 29th ISFG Congress
We would like to dedicate these Proceedings to Professor Peter M. Schneider, who passed away September 8, 2022, shortly after ISFG 2022. His contributions to ISFG and to the field of forensic genetics over more than three decades have impacted us all. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - November 27, 2022 Category: Forensic Medicine Authors: John M. Butler, Toni M. Diegoli, Heather E. McKiernan, Christian G. Westring Tags: Editorial Source Type: research

Framework for qPCR modeling and analysis of low copy number sample
For the diagnosis of infectious diseases and cancer risk estimation, the importance of accurate quantification of DNA or RNA templates in a sample has been increased. The author utilized the Cq distribution calculation method based on binomial distribution and observed that the distribution is multi-modal, indicating that the distribution cannot be represented by unimodal, such as Log-Normal or Gamma distributions. By combining the result of this model with the Poisson distribution, the Cq values probability distribution for a dilution experiment can be calculate as multi-modal distribution. (Source: Forensic Science Inter...
Source: Forensic Science International: Genetics Supplement Series - November 10, 2022 Category: Forensic Medicine Authors: Minoru Asogawa Source Type: research

Genetic identification of cannabis varieties based on marker str analysis: preliminary studies
Cannabis plants have been cultivated around the world for thousands of years and are widely used in the textile industry and medicine. From the point of view of analyses for the needs of the justice system, they can be divided into two categories – hemp of the fibrous type and the narcotic type, which differ in the content of the psychoactive compound THC. According to the guidelines, varieties with a content of active compounds above 0.2% are considered to be the narcotic type. The standard approach used to distinguish between these two t ypes of Cannabis is commonly used toxicological analysis. (Source: Forensic Scienc...
Source: Forensic Science International: Genetics Supplement Series - November 8, 2022 Category: Forensic Medicine Authors: Magdalena Marci ńska, Maria Wróbel, Andrzej Sekuła, Marek Kowalczyk, Karolina Sekuła, Jakub Czarny, Jolanta Powierska-Czarny, Radosław Nawotka, Robert Bachliński, Anna Duszyńska, Żanetta Makowska, Ewa Kadyjewska, Agnieszka Choromańska Source Type: research

A comprehensive GlobalFiler ™ autosomal STR reference dataset for Southern Africa
In this study a total of n  = 832 autosomal DNA profiles from Southern Africa are analysed using the GlobalFiler™ STR panel. The dataset includes South Africa (SA) profiles (n = 541) produced by Ristow et al. 2016 and includes newly generated data for SA Sepedi (n = 96) and Lesotho populations (n = 195). For the new ly generated (n = 291) genotypes, we report a large degree of rare and novel variation. This included (n = 7) off-ladder allele variants and (n = 7) TPOX tri-alleles. We report forensic summary statistics and genetic diversity parameters. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 28, 2022 Category: Forensic Medicine Authors: Mohaimin Kasu, Mpasi Lesaoana, Maria Eugenia D ’Amato Source Type: research

A comprehensive GlobalFiler ™ autosomal STR reference dataset for Southern African.
In this study a total of n= 832 autosomal DNA profiles from Southern Africa are analysed using the GlobalFiler ™ STR panel. The dataset includes South Africa (SA) profiles (n=541) produced by Ristow et al. 2016 and includes newly generated data for SA Sepedi (n=96) and Lesotho populations (n =195). For the newly generated n=291 genotypes, we report a large degree of rare and novel variation. This included (n=5) off-ladder allele variants and (n=7) TPOX tri-alleles. We report forensic summary statistics and genetic diversity parameters. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 28, 2022 Category: Forensic Medicine Authors: Mohaimin Kasu, Mpasi Leseaona, Maria Eugenia D ’Amato Source Type: research

Application of a Dense SNP PCR Multiplex for High Throughput Kinship Determination using Next Generation Sequencing (NGS)
The need to identify large numbers of missing persons from mass disasters, armed conflicts and human rights abuses has become increasingly prevalent. The ForenSeq ® Kintelligence Library Prep Kit together with NGS (sometimes called massively parallel sequencing), has been designed to interrogate 10,230 SNPs for the purpose of solving cold cases, including missing persons identification. The kit allows up to 3 samples per sequencing run in order to call suffi cient SNPs for detecting relationships up to 5th degree when searching direct to consumer DNA databases, such as GEDmatch PRO™. (Source: Forensic Science Internatio...
Source: Forensic Science International: Genetics Supplement Series - October 28, 2022 Category: Forensic Medicine Authors: Joana Antunes, Sarah Radecke, June Snedecor, Gothami Padmabandu, Kathryn M Stephens Source Type: research

Analysis of isoalleles and flanking SNPs of STR markers by NGS to distinguish monozygotic twins
DNA analysis for forensic investigations is based on the concept that everyone is genetically unique, except in cases of monozygotic (MZ) twins. The most used markers are STRs, analyzed by CE, but they don ’t allow the differentiation of MZ twins. Human identification using NGS is already part of some forensic laboratories and it enables reading the STRs’ sequence and its isoalleles, but there is no reference to this application for differentiation of MZ twins. Herein, we evaluated the possibility to distinguish MZ using the Precision ID GlobalFilerTM NGS STR Panel v2. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 27, 2022 Category: Forensic Medicine Authors: Renata I.B. Fonseca, Cintia Fridman Source Type: research

Forensic assessment on the application of a virtual pool of 30 Y-STRs
Ideally, 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 c apacity (DC), the number of Y-STRs has been gradually expanded also with the addition of rapidly mutating Y-STRs (RM Y-STRs). (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 27, 2022 Category: Forensic Medicine Authors: Giulia Soldati, Stefania Turrina, Domenico De Leo Source Type: research

Investigative Genetic Genealogy for Unidentified Human Remains Cases in Oregon
In 2018, the Oregon State Medical Examiner ’s Office (OSME) received a grant from the Bureau of Justice Assistance to use investigative genetic genealogy (IGG) with Parabon NanoLabs (Parabon) to attempt to make identifications in their unidentified human remains cases. Samples were screened for DNA quantity and quality, and selected sample s were sent for genome-wide single nucleotide polymorphism (SNP) generation. This multi-year collaboration has been extraordinarily successful: of 43 cases submitted, 39 cases have been investigated using IGG, and 30 have resulted in an identification so far. (Source: Forensic Science ...
Source: Forensic Science International: Genetics Supplement Series - October 27, 2022 Category: Forensic Medicine Authors: Ellen M. Greytak, Janet Cady, Nici Vance, CeCe Moore, Steven L. Armentrout Source Type: research

Deconvolution rules a tool to solve a complex paternity case where child was chimeric
STR-autosomal markers are among the most powerful systems to solve kinship attribution cases. The Y-STR chromosome analysis is another widely accepted system to confirm the parental relation alleged father-son. Here, we show an unusual Civil trial where a woman (VE) wanted to know whether a man (MR) was the father of her child (VM). Four years earlier, the child had been hospitalized in a Paediatric Onco-Haematology department. He had haematopoietic stem cell transplantation (HSCT) for a leukaemia disease. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 27, 2022 Category: Forensic Medicine Authors: C. Di Nunzio, G. Maione, A. Di Nunzio, C. Scalise, P. Ricci, N. Tinto Source Type: research

DNA profiles from biological trace material contained in underwear and toothbrushes
There are special cases where it is extremely difficult to find a close relative for obtaining reference samples, such as in adoption cases or foreigners without relatives in the country. In these cases, it is possible to use personal objects from the missing person. We developed a protocol for obtaining DNA profiles from toothbrushes and underwear and evaluated two DNA extraction methods (Silica and magnetic particles), comparing the DNA quantity and the quality of the obtained profiles. Results showed that for underwear, silica in suspension recovered higher DNA quantity but magnetic particles (PrepFiler ®) generated mo...
Source: Forensic Science International: Genetics Supplement Series - October 26, 2022 Category: Forensic Medicine Authors: Abdiel Gibran Torres-P érez, Mauro López-Armenta, Alexa Villavicencio-Queijeiro Source Type: research