Past, Present, and Future of DNA Typing for Analyzing Human and Non-Human Forensic Samples

Jordan, Deidra; Mills, DeEtta K.

doi:10.3389/fevo.2021.646130

Cited by 22 publications

(6 citation statements)

References 52 publications

(62 reference statements)

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“…Again, it is important to point out that the choice of panel will depend on the purpose and needs of the study. For example, in forensic genetics, sometimes samples with quantity and quality are not available, which limits the genotyping methodology 51 . Meanwhile, in clinical or genetic association studies, accurate genomic ancestry is essential.…”

Section: Discussionmentioning

confidence: 99%

Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

Escher

Naslavsky

Scliar

et al. 2022

Sci Rep

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The inference of genetic ancestry plays an increasingly prominent role in clinical, population, and forensic genetics studies. Several genotyping strategies and analytical methodologies have been developed over the last few decades to assign individuals to specific biogeographic regions. However, despite these efforts, ancestry inference in populations with a recent history of admixture, such as those in Brazil, remains a challenge. In admixed populations, proportion and components of genetic ancestry vary on different levels: (i) between populations; (ii) between individuals of the same population, and (iii) throughout the individual's genome. The present study evaluated 1171 admixed Brazilian samples to compare the genetic ancestry inferred by tri-/tetra-hybrid admixture models and evaluated different marker sets from those with small numbers of ancestry informative markers panels (AIMs), to high-density SNPs (HDSNP) and whole-genome-sequence (WGS) data. Analyses revealed greater variation in the correlation coefficient of ancestry components within and between admixed populations, especially for minority ancestral components. We also observed positive correlation between the number of markers in the AIMs panel and HDSNP/WGS. Furthermore, the greater the number of markers, the more accurate the tri-/tetra-hybrid admixture models.

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Section: Discussionmentioning

confidence: 99%

Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

Escher

Naslavsky

Scliar

et al. 2022

Sci Rep

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show abstract

“…The choice of one or the other will depend on the purpose and needs of the study. For example, in forensic genetics, sometimes samples with quantity and quality are not available, which limits the genotyping methodology [52]. On the other hand, in clinical or genetic association studies, the accuracy of genomic ancestry is essential, and it is often necessary to go a step beyond the genomic mean and make inferences about ancestry in speci c genomic segments [53,54].…”

Section: Discussionmentioning

confidence: 99%

Genetic Ancestry Inference: from AIMS to WGS application and challenges in admixed population

Escher

Naslavsky

Scliar

et al. 2022

Preprint

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Increasingly, the inference of genetic ancestry plays a prominent role in clinical, population and forensic genetics studies. Over the last few decades, several genotyping strategies and analytical methodologies have been developed in order to assign individuals to specific biogeographic regions. However, despite all these efforts, the ancestry inference in populations with a recent history of admixture, such as those in America, is still a challenge. In admixed populations, proportion and components of genetic ancestry vary at different levels: (i) between populations; (ii) between individuals of the same population; (iii) throughout the individual's genome. In the present study we compared and evaluated different sets of markers, from those with small numbers of ancestry informative markers panels (AIMs), to high-density SNPs (HDSNP) and whole-genome-sequence (WGS) data. To this end, we evaluated 1,675 admixed samples from America, using a tetrahybrid admixture model (Native American, European, African and East Asian). Analyses show greater variation in the correlation coefficient of ancestry components within and between admixed populations, especially for minority ancestral components. We also observed, the higher the number of markers in the AIMs panel, the higher the correlation with HDSNP and WGS. In addition, the greater the number of markers, the more robust was the tetrahybrid admixture model.

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“…However, DNA profiling of compromised skeletal remains can often be challenging using routine autosomal short tandem repeat (STR) profiling procedures, or additional genetic information is required to infer kinship, so a number of alternative genetic markers such as lineage markers or panels of single nucleotide polymorphisms (SNPs) should be available for DNA identification casework (Ward, 2017). The DNA analysis process has continued to evolve, becoming progressively faster and more sensitive as an increased number of genetic markers are able to be analyzed in a single run for a variety of sample types contributing to a robust identification (Jordan & Mills, 2021). Newer rapid DNA technologies have also expedited identification with several instruments showing increased utility for human identification with PM sample types including nail, tissue, teeth, and bone (Turingan et al, 2020; Watherston et al, 2021).…”

Section: Primary Forensic Profiling Methods For Identificationmentioning

confidence: 99%

An interdisciplinary forensic approach for human remains identification and missing persons investigations

Dahal

McNevin

Chikhani

et al. 2023

WIREs Forensic Science

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The resolution of unidentified human remains (UHR) and long‐term missing persons (LTMP) cases is paramount for administrative, legal, and humanitarian reasons. There are various forensic profiling methods for human identification; however, their utility is dependent on several factors. First, UHR can be found in different stages of decomposition, so the availability and diversity of post‐mortem (PM) information will differ. Second, the availability and totality of the LTMP's ante‐mortem (AM) information will differ. Therefore, the suitability of existing methods will be dependent on the quality and quantity of PM and/or AM data available for comparison. Visual recognition is the simplest and quickest method, but typically not practiced or possible, owing to the altered, fragmented, or skeletonized state of UHR. Primary forensic profiling methods involve the comparison of fingerprint, dental, DNA, and medical data. Secondary forensic profiling methods from anthropology, radiology, geochemistry, and anatomy disciplines can provide supplementary evidence to support comparative identification approaches. Emerging forensic molecular technologies such as genomics, microbiomics, epigenetics, and proteomics, together with individual digital footprints from personal devices, offer new investigative leads for establishing identity. However, despite the success of these individual methods, their limitations must be considered when used in isolation. Through the development of a guiding forensic examination framework, this review endorses an interdisciplinary response to unidentified and missing persons investigations, where various forensic specialists collaboratively examine UHR using a suite of contemporary forensic profiling methods to produce multiple and/or different lines of evidence to link them effectively, efficiently, comprehensively, and systematically to LTMP. This article is categorized under: Forensic Science in Action/Crime Scene Investigation > Special Situations and Investigations Forensic Biology > DNA Testing in Disaster Victim and Missing Persons Identification Forensic Medicine > Medicolegal Death Investigation Systems Jurisprudence and Regulatory Oversight > Interdisciplinary Collaboration

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Past, Present, and Future of DNA Typing for Analyzing Human and Non-Human Forensic Samples

Cited by 22 publications

References 52 publications

Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

Genetic Ancestry Inference: from AIMS to WGS application and challenges in admixed population

An interdisciplinary forensic approach for human remains identification and missing persons investigations

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