Evaluation of the HIrisPlex-S system in a Brazilian population sample
This study aims to analyze the HIrisPlex-S system accuracy in an admixed sample of 276 individuals from the region of Ribeir ão Preto city in Southeastern Brazil. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: T.M.T. Carratto, L. Marcorin, G. Debortoli, G.V. Silva, N.C.A. Fracasso, M.L.G. Oliveira, A.L.E. Pereira, A.B.C. Silva, E.A. Donadi, A.L. Sim ões, E.C. Castelli, H.L. Norton, E.J. Parra, C.T. Mendes-Junior Source Type: research

38 INSERTION-DELETION (InDel) MARKERS ANALYSIS AND ITS APPLICATION IN FORENSIC CASES
The typing of short tandem repeats (STRs) is a common method used in forensic laboratories based on its good performance. However, because of the relatively large size of amplicons (150 –500 bp), most of them are unsuitable for degraded DNA and low copy number samples. So, there is a need to find new genetic makers with smaller amplicon size.Recently, some forensic researchers focused their attention to alternative and supplementary genetic markers in the human genome: insertion- deletion polymorphisms (InDels). (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: V. Cortellini, H.S.D. Correa, G. Brescia, N. Cerri, A. Verzeletti Source Type: research

Weighing substructure in Argentina considering different population clusters
In this study 914 unrelated haplotypes from residents of all the provinces of Argentina, typed for a set of 12 X-STRs, were considered. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Garc ía M.G., Catanesi C.I., Penacino G.A., Pinto N. Source Type: research

EVALUATION OF THE PERFORMANCE OF THE BETA VERSION OF THE FORENSEQ DNA SIGNATURE PREP KIT ON THE MISEQ FGx FORENSIC GENOMICS SYSTEM
Massively Parallel Sequencing (MPS) are innovative approaches of analysis of genetic markers, supported by the forensic community. The Illumina Beta Version of the ForenSeq DNA Signature Prep Kit is a high-throughput, multiplexing kit allowing simultaneous, high resolution sequencing of 153 identity informative markers (including 27 autosomal STRs, 7 X-chromosomal, 24 Y-chromosomal haplotype markers and 94 SNPs) plus 56 biogeographical ancestry and 22 phenotypic informative SNPs. Implementation of MPS technology in forensic casework laboratories needs comprehensive, internal validation according to SWGDAM guidelines. (Sour...
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Marci Å„ska Magdalena Source Type: research

Evaluation of str profiles of single telogen hairs using probabilistic methods
Full STR profiles can rarely be obtained from single telogen hairs due to the minute amount and compromised integrity of their DNA. We developed a next generation sequencing (NGS)-based STR assay, called maSTR (mini-amplicon STR) assay that is particularly suited for degraded DNA. The maSTR assay yielded higher allele recoveries than capillary electrophoresis (CE)-based STR analysis from DNA from single telogen hairs, however displayed a higher number of allelic drop-ins. To calculate likelihood ratios for assignment to correct donors, profiles composed by consensus or composite interpretation were subjected to fully or se...
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Sarah Aurora He ß, Richard Jäger Source Type: research

Non-destructive means of sampling paper documents for generation of STR profiles
The sampling of touch DNA from paper documents is often achieved by simply excising pieces of the document. This generates high-quality DNA profiles but also damages evidence; thus, we investigated non-destructive sampling of paper documents for touch DNA. Exploratory and confirmatory studies were performed to identify a non-destructive technique that generated excision-comparable STR profiles. Sampling with adhesive portions of sticky notes performed well in the initial exploratory study: in the confirmatory study the adhesive-based technique generated profiles of comparable completeness to conventional excision, with no ...
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Wood Zoe, Mitchell Tina, Gammon Katharine, Stanton Diane, Mayers Carl Source Type: research

Recommendations of the Ge.F.I. (Italian speaking group of the ISFG)
The Ge.F.I. has by statute the task of elaborating recommendations and their periodic revision. To this aim, in the last years, the board of the Ge.F.I. (Italian Forensic Genetics group) developed recommendations on three topics:1) Personal identification2) Paternity testing3) Collection of the biological evidences in rape/maltreatment cases. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Loredana Buscemi, on behalf of Ge.F.I. Source Type: research

Evaluation of 30 insertion/deletion polymorphisms as forensic markers in the Kuwaiti population
Insertion/deletion (indel) polymorphism markers have been developed as a supplementary genotyping system in forensic DNA testing. The only commercial indel genotyping kit is the Qiagen Investigator ® DIPplex kit, which includes 30 loci that can be typed using PCR-capillary electrophoresis (PCR-CE). We show that these 30 markers can be used to genetically assign Kuwaiti individuals to their population of origin when compared to other distant populations, using principal components analysis (PC A) and STRUCTURE. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Mahdi Haidar, Hussain Alsaleh, Penelope R. Haddrill Source Type: research

Development and validation of a 21-plex str panel
Short tandem repeat (STR) analysis is the most common and informative type of DNA profiling widely used in paternity testing, missing persons ’ cases, and forensic applications. Several commercial kits based on STR technology were developed to meet current international standards, such as the European Standard Set (ESS) and the Combined DNA Index System (CODIS). Here, we report the development of the in-house STR panel ixMark PLUS that contains 21 markers: the 13 original CODIS STR loci with four non-overlapping loci from the expanded ESS, as well as SE33 and D6S1043, one Y-STR DYS391, and the sex-determining marker Amel...
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Natalya Khodeneva, Elmira Larionova, Natalya Ermakova Source Type: research

A couple of chimeric twins generated from a possible intrauterine cell exchange
Chimerism is the presence of two or more genetically distinct cell lines in an organism. The presence of blood Chimerism in human twins is rare and was first described by Dunsford in 1953 [2] who discovered a mixture of two blood types in a donor. The only way some chimeras can be distinguished from non-chimeras is through DNA testing.In 2017 in the context of a sex assault, a blood sample came to our Forensic Genetic Laboratory. When analyzed with STRs and the results were confirmed, the obtained profile surprised us. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Dante Corradi, Laura Locarno, Miguel Marino Source Type: research

UNDERESTIMATION AND MISCLASSIFICATION OF MUTATIONS AT X CHROMOSOME STRs DEPEND ON POPULATION ’S ALLELIC PROFILE
Short tandem repeats are extremely abundant in the human genome and widely used in population and forensic genetics. The conventional approach to estimate mutation rates for STRs involves the detection of Mendelian incompatibilities and their frequency quantification, in family duos or trios. In this work, we aim to measure the impact this estimation methodology implies in the underestimation of mutation rates.We computed two independent experiences simulating one single-step mutation and one double step mutation in each pedigree. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: S. Ant ão-Sousa, E. Conde-Sousa, L. Gusmão, A. Amorim, N. Pinto Source Type: research

The impact of FDSTools noise correction on the analysis of data from the Forenseq â„¢ DNA Signature Prep Kit
Massively Parallel Sequencing (MPS) enables simultaneous analysis of a much larger number of forensic markers compared to conventional capillary electrophoresis (CE) sizing-based genotyping. Since both methods rely on amplified STR fragments, stutter products will occur that can complicate the detection of minor contributors in mixed samples. Sequence variation observed in STRs and their flanking regions can help to distinguish genuine alleles from stutter artefacts and noise correction can be applied to filter stutter artefacts. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: K.J. van der Gaag, J. Hoogenboom, L. Busscher, C. Benschop, S. Zu ñiga, T. Sijen Source Type: research

Genomic portrait of population of Uttar Pradesh, India drawn with autosomal STRs and Y-STRs
Genetic portrait of population of Uttar Pradesh is drawn by analyzing autosomal and Y- STRs in 100 unrelated male individuals to establish parameters of forensic interest. Allele frequencies are reported for autosomal STRs. The examined autosomal STRs uncovered high combined power of exclusion (CPE) and combined power of discrimination (CPD). The haplotype diversity, discrimination capacity and matching probability for Y-STRs loci are also reported. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: Ankit Srivastava, Vijay Kumar Yadav, Kriti Nigam, Shivani Dixit, R K Kumawat, Divya Shrivastava, Pankaj Shrivastava Source Type: research

Ancestry evaluation in a population sample of the Tunja city, Department of Boyac á - Colombia
Ancestry Informative Markers InDels (AIM-InDels) show high allele frequency variation between ancestral populations and are useful to estimate individual and population ancestry. This work determined the African, European and Native American admixture proportions in a population sample of 126 individuals from Tunja, Department of Boyac á, Colombia. This region is located close to the center of the country and has a diverse population. To estimate the African, European and Native American admixture proportions, in the sample there were used as parental populations, the genetic profiles of 319 individuals (Africans: 105, Eur...
Source: Forensic Science International: Genetics Supplement Series - October 19, 2019 Category: Forensic Medicine Authors: Izquel Sanchez, Libardo Mendoza, Alma Luciel Rinc ón, Diana Patricia Aguirre, Juan José Builes Source Type: research

UniQ-Typer ™ Y-10 genotyping in South African populations: novel alleles, sequence variation and allelic ladder updates
In this study the novel Y-chromosome Short Tandem Repeat (Y-STR) multiplex called the UniQ-Typer ™ Y-10 was utilised for population wide genotyping in South Africa. In this study we provide a significant updated to the genotyping allelic ladder for the panel and report novel variation which gave strong signals to potentially infer biogeographic ancestry. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 19, 2019 Category: Forensic Medicine Authors: Mohaimin Kasu, Mischa Fraser, Maria Eugenia D ’Amato Source Type: research