Assessment of the Precision ID Identity Panel kit on challenging forensic samples

Turchi, Chiara; Previderé, Carlo; Bini, Carla; Carnevali, E.; Grignani, Pierangela; Manfredi, Alessandro; Melchionda, Filomena; Onofri, Valerio; Pelotti, Susi; Robino, Carlo; Sorçaburu-Ciglieri, Solange; Tagliabracci, Adriano; Fattorini, Paolo

doi:10.1016/j.fsigen.2020.102400

Cited by 24 publications

(43 citation statements)

References 38 publications

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“…Such methods are very sensitive and capable of providing authentic mtDNA data from the most challenging of forensic specimens. These MPS workflows have also been adapted for SNP profiling of degraded DNA specimens [ 11 , 12 , 13 , 14 , 15 ]. Large SNP multiplexes suitable for extended kinship analysis can be readily enriched using custom hybridization capture [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications

Tillmar

Sturk-Andreaggi

Daniels-Higginbotham³

et al. 2021

Genes

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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.

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Section: Introductionmentioning

confidence: 99%

The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications

Tillmar

Sturk-Andreaggi

Daniels-Higginbotham³

et al. 2021

Genes

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“…A study by Meiklejohn and Robertson mentions the amplification of libraries, but only in order to quantify them after using Qubit and Bioanalyzer [ 62 ]. The potential effect of the library amplification on the low-template samples is presented by Turchi et al [ 63 ]. The authors performed a comprehensive validation of the Precision ID Identity Panel by Thermo Fisher Scientific by sequencing challenging forensic samples on the Ion PGM.…”

Section: Discussionmentioning

confidence: 99%

Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing

Diepenbroek

Bayer

Anslinger

2021

Genes

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Single-cell sequencing is a fast developing and very promising field; however, it is not commonly used in forensics. The main motivation behind introducing this technology into forensics is to improve mixture deconvolution, especially when a trace consists of the same cell type. Successful studies demonstrate the ability to analyze a mixture by separating single cells and obtaining CE-based STR profiles. This indicates a potential use of the method in other forensic investigations, like forensic DNA phenotyping, in which using mixed traces is not fully recommended. For this study, we collected single-source autopsy blood from which the white cells were first stained and later separated with the DEPArray™ N×T System. Groups of 20, 10, and 5 cells, as well as 20 single cells, were collected and submitted for DNA extraction. Libraries were prepared using the Ion AmpliSeq™ PhenoTrivium Panel, which includes both phenotype (HIrisPlex-S: eye, hair, and skin color) and ancestry-associated SNP-markers. Prior to sequencing, half of the single-cell-based libraries were additionally amplified and purified in order to improve the library concentrations. Ancestry and phenotype analysis resulted in nearly full consensus profiles resulting in correct predictions not only for the cells groups but also for the ten re-amplified single-cell libraries. Our results suggest that sequencing of single cells can be a promising tool used to deconvolute mixed traces submitted for forensic DNA phenotyping.

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“…Normally, genetic investigations carried out in the forensic context for individual identification are strictly based on comparative bases: DNA profiles obtained from biological material found at crime scenes, in cases of missing persons or mass disasters, are compared with those of individuals of interest or their relatives [41]. If compatibility between biological sample and reference profile is demonstrated, then it is possible to establish the identity of the subject [42]. Otherwise, if there isn't genetic compatibility between the DNA profiles, the identification of the subject or the establishment of kinship relationships are excluded.…”

Section: Routine Casework Technologies In Forensic Geneticsmentioning

confidence: 99%

Establishing a missing person DNA Biobank as a form of human rights protection

Carnevali¹,

Severini²,

Margiotta³

et al. 2022

Front. Biosci. (Landmark Ed)

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Nowadays, organ transplantation is considered an established medical practice that, every year, improves the quality of life of thousands of patients. However, the increasing demands for kidney transplantation are in contrast with the global lack of organs. The imbalance between supply and demand for organs has created the basis for a highly profitable black market, placing illicit organ trafficking in the broader context of human trafficking. Currently, thanks to the advancements of the analytical techniques used in laboratories, forensic genetics is able to discriminate the geographical origin of genetically distinct populations. The recent availability of genetic data regarding many populations of the world and the concomitant development of technologies and methodologies that are appropriate for the study of panels of STRs and SNPs are fundamental resources in this direction. This type of analyses, together with the creation of missing person DNA databases, may be used in cases of dubious origin of organs or in transplantation cases in which clear and comprehensive medical records of patients and donors are not available. It can also establish a scientific tool useful to contrast the illegal traffic of human kidneys. In this article, we will discuss biological and ethical aspects of this interesting perspective.

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Assessment of the Precision ID Identity Panel kit on challenging forensic samples

Cited by 24 publications

References 38 publications

The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications

The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications

Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing

Establishing a missing person DNA Biobank as a form of human rights protection

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