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https://www.readbyqxmd.com/read/28549544/genetic-dissection-of-five-ethnic-groups-from-punjab-north-west-india-a-study-based-on-autosomal-markers
#1
Gagandeep Singh, Indu Talwar, Harkirat Singh Sandhu, Kawaljit Matharoo, A J S Bhanwer
The present study assessed the applicability of Alu insertion elements and Single Nucleotide Polymorphisms (SNPs) in forensic identification and estimated the extent of genetic variation in five major ethnic groups of Punjab, North-West India. A total of 1012 unrelated samples belonging to Banias, Brahmins, Jat Sikhs, Khatris and Scheduled Castes were genotyped for four Alu elements (ACE, APO, PLAT, D1) and six Single Nucleotide Polymorphisms [ESR (PvuII), LPL (PvuII), HTR2A (MspI), DRD2 Taq1A, Taq1B, Taq1D]...
May 2017: Legal Medicine
https://www.readbyqxmd.com/read/28547136/curiosities-of-x-chromosomal-markers-and-haplotypes
#2
Daniel Kling
Recent progress in forensic genetics has introduced a number of closely located short tandem repeat (STR) markers on the X chromosome. Inevitably, dependencies arise that have to be accounted for. This paper will in detail explore the complex statistical interpretation of X-chromosomal STR markers, focusing on likelihood calculations. Specifically, we will investigate how the phase uncertainty of haplotypes comes into play in the statistical evaluations and what curious effects this phenomenon can have. The starting point is the different real cases where the weight of evidence has provided unexpected results that require further investigation in order to be fully understood...
May 26, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28544956/dna-commission-of-the-international-society-for-forensic-genetics-isfg-guidelines-on-the-use-of-x-strs-in-kinship-analysis
#3
Andreas O Tillmar, Daniel Kling, John M Butler, Walther Parson, Mechthild Prinz, Peter M Schneider, Thore Egeland, Leonor Gusmão
Forensic genetic laboratories perform an increasing amount of genetic analyses of the X chromosome, in particular to solve complex cases of kinship analysis. For some biological relationships X-chromosomal markers can be more informative than autosomal markers, and there are a large number of markers, methods and databases that have been described for forensic use. Due to their particular mode of inheritance, and their physical location on a single chromosome, some specific considerations are required when estimating the weight of evidence for X-chromosomal marker DNA data...
May 13, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28507140/linkage-disequilibrium-matches-forensic-genetic-records-to-disjoint-genomic-marker-sets
#4
Michael D Edge, Bridget F B Algee-Hewitt, Trevor J Pemberton, Jun Z Li, Noah A Rosenberg
Combining genotypes across datasets is central in facilitating advances in genetics. Data aggregation efforts often face the challenge of record matching-the identification of dataset entries that represent the same individual. We show that records can be matched across genotype datasets that have no shared markers based on linkage disequilibrium between loci appearing in different datasets. Using two datasets for the same 872 people-one with 642,563 genome-wide SNPs and the other with 13 short tandem repeats (STRs) used in forensic applications-we find that 90-98% of forensic STR records can be connected to corresponding SNP records and vice versa...
May 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28454050/forensic-genetic-analyses-in-isolated-populations-with-examples-of-central-european-valachs-and-roma
#5
REVIEW
Edvard Ehler, Daniel Vanek
Isolated populations present a constant threat to the correctness of forensic genetic casework. In this review article we present several examples of how analyzing samples from isolated populations can bias the results of the forensic statistics and analyses. We select our examples from isolated populations from central and southeastern Europe, namely the Valachs and the European Roma. We also provide the reader with general strategies and principles to improve the laboratory practice (best practice) and reporting of samples from supposedly isolated populations...
April 13, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28427331/erratum-to-more-comprehensive-forensic-genetic-marker-analyses-for-accurate-human-remains-identification-using-massively-parallel-dna-sequencing
#6
Angie D Ambers, Jennifer D Churchill, Jonathan L King, Monika Stoljarova, Harrell Gill-King, Mourad Assidi, Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Mohammed Al-Qahtani, Bruce Budowle
No abstract text is available yet for this article.
April 20, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28416281/population-structure-of-han-nationality-in-central-southern-china
#7
Qiu-Ling Liu, Ye-Fei Chen, Xin He, Yan-Wei Shi, Wei-Wei Wu, Hu Zhao, De-Jian Lu
Knowledge of population structure is very important for forensic genetics. However, the population substructure in Central-Southern China Han nationality has still not been fully described. In this study, we investigated the genetic diversity of 15 forensic autosomal STR loci from 6879 individuals in 12 Han populations subdivided by administrative provinces in Central-Southern China. The statistical analysis of genetic variation showed that genetic differentiation among these populations was very small with a Fst value of 0...
April 4, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28401303/evaluation-of-forensic-genetic-parameters-of-12-str-loci-in-the-korean-population-using-the-investigator-%C3%A2-hdplex-kit
#8
Ju Yeon Jung, Eun Hye Kim, Yu-Li Oh, Hyun-Chul Park, Jung Ho Hwang, Si-Keun Lim
We genotyped and calculated the forensic parameters of 10 non-CODIS loci and 2 CODIS loci of 990 Korean individuals using the Investigator(Ⓡ) HDplex kit. No significant deviations from Hardy-Weinberg equilibrium (after Bonferroni correction for multiple testing) or genetic linkage disequilibrium were observed. The calculated matching probability and power of discrimination ranged from 0.0080 to 0.2014, and 0.7986 to 0.9920, respectively. We conclude that the markers of the kit are highly informative corroborative tools for forensic DNA analysis...
April 11, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28387876/development-of-a-polymorphic-short-tandem-repeat-locus-multiplex-system-for-efficient-human-identification
#9
R G Rodovalho, E L Rodrigues, G S Santos, L M Cavalcanti, P R Lima, A G Rodovalho, R G Vital, M A D Gigonzac, A D da Cruz
This study aimed to develop a short tandem repeat (STR) multiplex system, made up of 22 highly informative STR loci, for application in forensic genetics. The system comprised 21 polymorphic autosomal loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA, D2S441, D17S1301, D19S433, D18S853, D20S482, and D14S1434) and the amelogenin gene locus. Strategies were developed to overcome the challenges involved in creating a multiplex system. Based on the literature and available databases, the STR loci were selected with the aim to obtain discriminatory markers, and followed specific criteria for this purpose...
April 5, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28343097/strait-razor-v2s-advancing-sequence-based-str-allele-reporting-and-beyond-to-other-marker-systems
#10
Jonathan L King, Frank R Wendt, Jie Sun, Bruce Budowle
STRait Razor has provided the forensic community a free-to-use, open-source tool for short tandem repeat (STR) analysis of massively parallel sequencing (MPS) data. STRait Razor v2s (SRv2s) allows users to capture physically phased haplotypes within the full amplicon of both commercial (ForenSeq) and "early access" panels (PowerSeq, Mixture ID). STRait Razor v2s may be run in batch mode to facilitate population-level analysis and is supported by all Unix distributions (including MAC OS). Data are reported in tables in string (haplotype), length-based (e...
March 12, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28324847/species-identification-in-forensic-samples-using-the-spindel-approach-a-ghep-isfg-inter-laboratory-collaborative-exercise
#11
Cíntia Alves, Rui Pereira, Lourdes Prieto, Mercedes Aler, Cesar R L Amaral, Cristina Arévalo, Gabriela Berardi, Florencia Di Rocco, Mariela Caputo, Cristian Hernandez Carmona, Laura Catelli, Heloísa Afonso Costa, Pavla Coufalova, Sandra Furfuro, Óscar García, Anibal Gaviria, Ana Goios, Juan José Builes Gómez, Alexis Hernández, Eva Del Carmen Betancor Hernández, Luís Miranda, David Parra, Susana Pedrosa, Maria João Anjos Porto, Maria de Lurdes Rebelo, Matteo Spirito, María Del Carmen Villalobos Torres, António Amorim, Filipe Pereira
DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method. The SPInDel kit allows the identification of species by the generation of numeric profiles combining the lengths of six mitochondrial ribosomal RNA (rRNA) gene regions amplified in a single reaction followed by capillary electrophoresis...
March 7, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28314239/likelihood-ratio-and-posterior-odds-in-forensic-genetics-two-sides-of-the-same-coin
#12
Amke Caliebe, Susan Walsh, Fan Liu, Manfred Kayser, Michael Krawczak
It has become widely accepted in forensics that, owing to a lack of sensible priors, the evidential value of matching DNA profiles in trace donor identification or kinship analysis is most sensibly communicated in the form of a likelihood ratio (LR). This restraint does not abate the fact that the posterior odds (PO) would be the preferred basis for returning a verdict. A completely different situation holds for Forensic DNA Phenotyping (FDP), which is aimed at predicting externally visible characteristics (EVCs) of a trace donor from DNA left behind at the crime scene...
March 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28279935/evaluation-of-the-illumina-forenseq%C3%A2-dna-signature-prep-kit-mps-forensic-application-for-the-miseq-fgx%C3%A2-benchtop-sequencer
#13
Catarina Xavier, Walther Parson
Massively Parallel (Next Generation) Sequencing (MPS) technologies have recently been proven useful and successful in typing various markers relevant in forensic genetics, such as STRs, SNPs and mitochondrial genomes. Early studies investigated self-developed DNA libraries, commercially supplied kits are currently being made available to allow a smoother and gradual implementation of such technologies in forensic laboratories. The ForenSeq™ DNA Signature Prep Kit (Illumina, CA) is the first commercially available STR kit that can be used on the MiSeq FGx™ (Illumina, CA) benchtop high-throughput sequencer...
March 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28273506/evaluation-of-the-precision-id-ancestry-panel-for-crime-case-work-a-snp-typing-assay-developed-for-typing-of-165-ancestral-informative-markers
#14
Vania Pereira, Helle S Mogensen, Claus Børsting, Niels Morling
The application of massive parallel sequencing (MPS) methodologies in forensic genetics is promising and it is gradually being implemented in forensic genetic case work. One of the major advantages of these technologies is that several traditional electrophoresis assays can be combined into one single MPS assay. This reduces both the amount of sample used and the time of the investigations. This study assessed the utility of the Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) in forensic genetics...
February 24, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28242603/optimization-and-validation-of-analysis-method-based-on-27-plex-snp-panel-for-ancestry-inference
#15
Jiang Li, Sun Qifan, Ma Quan, Zhao Wenting, Liu Jing, Zhao Lei, Ji Anquan, Li Caixia
Anthropology generally divides the individuals into the East Asian Mongolia race, European Caucasian race and African Nigro race. The 27-plex single nucleotide polymorphism (SNP) panel for ancestry information has been established to differentiate samples from East Asian, European, African and admixture populations of East Asian and European origin by genotyping and ancestry inference. To infer ancestry for unknown individuals, we established an optimized analysis pipeline based on the likelihood ratio, ancestry component and individual ancestry assignment...
February 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28168762/developing-a-new-nonbinary-snp-fluorescent-multiplex-detection-system-for-forensic-application-in-china
#16
Yanfang Liu, Huidan Liao, Ying Liu, Juanjuan Guo, Yi Sun, Xiaoliang Fu, Ding Xiao, Jifeng Cai, Lingmei Lan, Pingli Xie, Lagabaiyila Zha
Nonbinary single-nucleotide polymorphisms (SNPs) are potential forensic genetic markers because their discrimination power is greater than that of normal binary SNPs, and that they can detect highly degraded samples. We previously developed a nonbinary SNP multiplex typing assay. In this study, we selected additional 20 nonbinary SNPs from the NCBI SNP database and verified them through pyrosequencing. These 20 nonbinary SNPs were analyzed using the fluorescent-labeled SNaPshot multiplex SNP typing method. The allele frequencies and genetic parameters of these 20 nonbinary SNPs were determined among 314 unrelated individuals from Han populations from China...
April 2017: Electrophoresis
https://www.readbyqxmd.com/read/28164539/post-mortem-identification-of-a-fire-carbonized-body-by-str-genotyping
#17
Raluca Dumache, Camelia Muresan, Veronica Ciocan, Alexandru F Rogobete, Alexandra Enache
BACKGROUND: Identification of bodies of unknown identity that are victims of exposure to very high temperatures, resulting from fires, plane crashes, and terrorist attacks, represents one of the most difficult sides of forensic genetics, because of the advanced state of decomposition. The aim of this study was the identification of the carbonized cadaver of a fire victim through STR genotyping. METHODS: We used blood samples obtained from the iliac artery during the autopsy examination as biological samples from the unidentified victim...
October 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28101645/forensic-parameters-of-19-x-str-polymorphisms-in-two-chinese-populations
#18
Chuncao Deng, Feng Song, Jienan Li, Yi Ye, Lushun Zhang, Weibo Liang, Haibo Luo, Yingbi Li
Application of X-STRs as complements of autosomal STR application in the forensic genetics has become a tendency for kinship testing, especially in deficiency paternity cases. Recently, a novel kit of 19 X-STR loci was developed, which permitted the analysis of 19 STR in the same PCR reaction, and these markers can be clustered into seven groups for the physical linkage. The objective of this study was to evaluate the allele and haplotype diversity of 19 X-STR loci in the Uygur (n = 220) and Tibetan nationality (n = 270) and to estimate the usefulness for complex kinship analysis...
January 18, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28078776/performance-of-the-forenseq-tm-dna-signature-prep-kit-on-highly-degraded-samples
#19
Paolo Fattorini, Carlo Previderé, Ilaria Carboni, Giorgio Marrubini, Solange Sorçaburu-Cigliero, Pierangela Grignani, Barbara Bertoglio, Paolo Vatta, Ugo Ricci
Next generation sequencing (NGS) is the emerging technology in forensic genomics laboratories. It offers higher resolution to address most problems of human identification, greater efficiency and potential ability to interrogate very challenging forensic casework samples. In this study, a trial set of DNA samples was artificially degraded by progressive aqueous hydrolysis, and analyzed together with the corresponding unmodified DNA sample and control sample 2800 M, to test the performance and reliability of the ForenSeq(TM) DNA Signature Prep kit using the MiSeq Sequencer (Illumina)...
April 2017: Electrophoresis
https://www.readbyqxmd.com/read/28073088/characterization-of-the-iberian-y-chromosome-haplogroup-r-df27-in-northern-spain
#20
Patricia Villaescusa, María José Illescas, Laura Valverde, Miriam Baeta, Carolina Nuñez, Begoña Martínez-Jarreta, Maria Teresa Zarrabeitia, Francesc Calafell, Marian M de Pancorbo
The European paternal lineage R-DF27 has been proposed as a haplogroup of Iberian origin due to its maximum frequencies in the Iberian Peninsula. In this study, the distribution and structure of DF27 were characterized in 591 unrelated male individuals from four key populations of the north area of the Iberian Peninsula through the analysis of 12 Y-SNPs that define DF27 main sublineages. Additionally, Y-SNP allele frequencies were also gathered from the reference populations in the 1000 Genomes Project to compare and obtain a better landscape of the distribution of DF27...
December 29, 2016: Forensic Science International. Genetics
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