BGISEQ-500RS sequencing of a 448-plex SNP panel for forensic individual identification and kinship analysis

2021 ◽  
Vol 55 ◽  
pp. 102580
Author(s):  
Guang-Bin Zhao ◽  
Guan-Ju Ma ◽  
Chi Zhang ◽  
Ke-Lai Kang ◽  
Shu-Jin Li ◽  
...  
Genes ◽  
2020 ◽  
Vol 11 (10) ◽  
pp. 1112
Author(s):  
Hashom Mohd Hakim ◽  
Hussein Omar Khan ◽  
Japareng Lalung ◽  
Bryan Raveen Nelson ◽  
Geoffrey Keith Chambers ◽  
...  

Science and technology are extensively used in criminal investigation. From the mid- to late-1980s, one of the scientific discoveries that has had a particularly remarkable impact on this field has been the use of highly variable DNA sequence regions (minisatellites) in the human genome for individual identification. The technique was initially referred to as DNA fingerprinting, but is now more widely referred to as DNA profiling. Since then, many new developments have occurred within this area of science. These include the introduction of new genetic markers (microsatellites also known as short tandem repeats/STRs), the use of the polymerase chain reaction for target amplification, the development of DNA databases (databanking), and the advancement and/or improvement of genotyping protocols and technologies. In 2019, we described the progress of DNA profiling and DNA databanking in Malaysia for the first time. This report included information on DNA analysis regulations and legislation, STR genotyping protocols, database management, and accreditation status. Here, we provide an update on the performance of our DNA databank (numbers of DNA profiles and hits) plus the technical issues associated with correctly assigning the weight of evidence for DNA profiles in an ethnically diverse population, and the potential application of rapid DNA testing in the country. A total of 116,534 DNA profiles were obtained and stored in the Forensic DNA Databank of Malaysia (FDDM) by 2019, having increased from 70,570 in 2017. The number of hits increased by more than three-fold in just two years, where 17 and 69 hits between the DNA profiles stored in the FDDM and those from crime scenes, suspects, detainees, drug users, convicts, missing persons, or volunteers were recorded in 2017 and 2019, respectively. Forensic DNA analysis and databanking are thus progressing well in Malaysia and have already contributed to many criminal investigations. However, several other issues are discussed here, including the need for STR population data for uncharacterized population groups, and pilot trials for adopting rapid DNA profiling technology. These aspects should be considered by policy makers and law enforcement agencies in order to increase the reliability and efficiency of DNA profiling in criminal cases and in kinship analysis in Malaysia.


2012 ◽  
Vol 29 (3) ◽  
pp. 533-541 ◽  
Author(s):  
S. P. Pierszalowski ◽  
M. Ferrari ◽  
D. Glockner-Ferrari ◽  
S. Mizroch ◽  
P. J. Clapham ◽  
...  

2021 ◽  
Author(s):  
Andreas Tillmar ◽  
Kimberly Sturk-Andreaggi ◽  
Jennifer Daniels-Higginbotham ◽  
Jacqueline Tyler Thomas ◽  
Charla Marshall

The FORensic Capture Enrichment (FORCE) panel is an all-in-one SNP panel for forensic applications. This panel of 5,422 markers encompasses common, forensically relevant SNPs (identity, ancestry, phenotype, X- and Y-chromosomal SNPs), a novel set of 3,931 autosomal SNPs for extended kinship analysis, and no clinically rele-vant/disease markers. The FORCE panel was developed as a custom hybridization capture assay utilizing ~20,000 baits to target the selected SNPs. Five non-probative, previously identified World War II (WWII) cases were used to assess the kinship panel. Each case included one bone sample and associated family reference DNA samples. Additionally, seven reference quality samples, two 200-year-old bone samples, and four control DNAs were processed for kit performance and concordance assessments. SNP recovery after capture resulted in a mean of ~99% SNPs exceeding 10X coverage for reference and control samples, and 44.4% SNPs for bone samples. The WWII case results showed that the FORCE panel could predict 1st to 5th degree relationships with strong statisti-cal support (likelihood ratios over 10,000 and posterior probabilities over 99.99%). To conclude, SNPs will be important for further advances in forensic DNA analysis. The FORCE panel shows promising results and demonstrates the utility of a 5,000 SNP panel for forensic applications.


2021 ◽  
Vol 12 ◽  
Author(s):  
Liao Chang ◽  
Huiyun Yu ◽  
Xinyao Miao ◽  
Siqi Wen ◽  
Bao Zhang ◽  
...  

Parentage testing is routinely performed by genotyping short tandem repeat (STR) through capillary electrophoresis in the present. However, ambiguous or even misjudged paternity based on STRs happens from time to time in cases where only one putative parent is available. We analyzed STR data of 7,818,969 unrelated pairs and 75 close-relative pairs and found that although the probability of a random false match between non-relatives was 4.22 × 10–6, the incidence of false or ambiguous paternity results between children and first-degree relatives of their true parent was as high as 18.67%. These results highlight the risk of false inclusion of a relative or even non-relatives in parentage testing with STRs. We then validated all ambiguous STR results by targeted sequencing with a custom panel containing 4,830 individual identification single nucleotide polymorphisms (IISNP), found that the ratio of mismatch loci to total SNPs was 1.78–6.95% in close relatives compared with 10.93–13.49% in unrelated pairs. Last, we reported three real cases with undetermined paternity by STRs and rectified them by dissecting with our IISNP panel. These results suggested that high-density IISNP panel can be used to identify and rectify misjudged cases effectively.


Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1968
Author(s):  
Andreas Tillmar ◽  
Kimberly Sturk-Andreaggi ◽  
Jennifer Daniels-Higginbotham ◽  
Jacqueline Tyler Thomas ◽  
Charla Marshall

The FORensic Capture Enrichment (FORCE) panel is an all-in-one SNP panel for forensic applications. This panel of 5422 markers encompasses common, forensically relevant SNPs (identity, ancestry, phenotype, X- and Y-chromosomal SNPs), a novel set of 3931 autosomal SNPs for extended kinship analysis, and no clinically relevant/disease markers. The FORCE panel was developed as a custom hybridization capture assay utilizing ~20,000 baits to target the selected SNPs. Five non-probative, previously identified World War II (WWII) cases were used to assess the kinship panel. Each case included one bone sample and associated family reference DNA samples. Additionally, seven reference quality samples, two 200-year-old bone samples, and four control DNAs were processed for kit performance and concordance assessments. SNP recovery after capture resulted in a mean of ~99% SNPs exceeding 10X coverage for reference and control samples, and 44.4% SNPs for bone samples. The WWII case results showed that the FORCE panel could predict first to fifth degree relationships with strong statistical support (likelihood ratios over 10,000 and posterior probabilities over 99.99%). To conclude, SNPs will be important for further advances in forensic DNA analysis. The FORCE panel shows promising results and demonstrates the utility of a 5000 SNP panel for forensic applications.


2018 ◽  
Vol 1 (2) ◽  
pp. 34-44
Author(s):  
Faris E Mohammed ◽  
Dr. Eman M ALdaidamony ◽  
Prof. A. M Raid

Individual identification process is a very significant process that resides a large portion of day by day usages. Identification process is appropriate in work place, private zones, banks …etc. Individuals are rich subject having many characteristics that can be used for recognition purpose such as finger vein, iris, face …etc. Finger vein and iris key-points are considered as one of the most talented biometric authentication techniques for its security and convenience. SIFT is new and talented technique for pattern recognition. However, some shortages exist in many related techniques, such as difficulty of feature loss, feature key extraction, and noise point introduction. In this manuscript a new technique named SIFT-based iris and SIFT-based finger vein identification with normalization and enhancement is proposed for achieving better performance. In evaluation with other SIFT-based iris or SIFT-based finger vein recognition algorithms, the suggested technique can overcome the difficulties of tremendous key-point extraction and exclude the noise points without feature loss. Experimental results demonstrate that the normalization and improvement steps are critical for SIFT-based recognition for iris and finger vein , and the proposed technique can accomplish satisfactory recognition performance. Keywords: SIFT, Iris Recognition, Finger Vein identification and Biometric Systems.   © 2018 JASET, International Scholars and Researchers Association    


2009 ◽  
Vol 31 (3) ◽  
pp. 285-289 ◽  
Author(s):  
Jing WANG ◽  
Chou-Sheng LIU ◽  
Li-Ping ZHANG ◽  
Zhi-Gang WANG ◽  
Fu-Qing YU ◽  
...  

Author(s):  
M.G.L. Mills ◽  
M.E.J. Mills

Most cheetah studies have been confined to mesic savannahs, yet much of its distribution range covers arid systems. The prime objective in this study was to examine the species’ adaptations to an arid region, to compare the results with those from other cheetah studies, especially from the Serengeti, and to analyse the data within the framework of carnivore population and behavioural ecology. The study was conducted in the Kgalagadi Transfrontier Park South Africa/Botswana, an area receiving 180–250 mm rainfall per year. Tracking spoor with the help of Bushmen trackers and continuous follows of 21 VHF radio-collared cheetahs were the main study methods used. These were supported by photographic records for individual identification, DNA studies for genetic aspects including paternity, and the use of doubly labelled water and the fitting of miniature data loggers for energetic studies. The statistical tests used to analyse the data are described.


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