Current and emerging tools for the recovery of genetic information from post mortem samples: New directions for disaster victim identification

Watherston, Jeremy; McNevin, Dennis; Gahan, Michelle E.; Bruce, David J. Murray; Ward, Jodie

doi:10.1016/j.fsigen.2018.08.016

Cited by 56 publications

(30 citation statements)

References 262 publications

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“…The qPCR-measured input DNA amounts of these four best performing bone DNA samples were all above 2.1 ng, while we obtained similar call rates of ~85% using 100pg of non-fragmented DNA. As our DNA quality experiments have shown that severely degraded DNA cannot be genotyped accurately with the GSA, the lower SNP microarray genotyping reliability can be attributed to the poor quality of nuclear DNA in the majority of the bone or teeth DNA samples tested (45). Notably, the SNP microarray results of these bone and teeth derived DNA samples were not in good agreement with results from forensic STR profiling.…”

Section: Discussionmentioning

confidence: 77%

“…Since experimental DNA degradation is artificial and does not resemble natural degradation processes, we additionally analyzed bone and tooth derived DNA samples from skeletal remains. These DNA samples naturally degraded under varying conditions and combine decreased DNA quantity and decreased quality, which is typical in missing person cases (45). However, only a minority of the skeleton-derived naturally degraded DNA samples yielded high-enough call rates sufficient for concluding high genotype accuracy (two samples had call rate > 93%, two others were in the grey zone >85% call rate).…”

Section: Discussionmentioning

confidence: 99%

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Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

Vries¹,

Kling

Vidaki

et al. 2021

Preprint

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Single nucleotide polymorphism (SNP) data generated with microarray technologies have been used to solve murder cases via investigative leads obtained from identifying relatives of the unknown perpetrator included in accessible genomic databases, referred to as investigative genetic genealogy (IGG). However, SNP microarrays were developed for relatively high input DNA quantity and quality, while SNP microarray data from compromised DNA typically obtainable from crime scene stains are largely missing. By applying the Illumina Global Screening Array (GSA) to 264 DNA samples with systematically altered quantity and quality, we empirically tested the impact of SNP microarray analysis of deprecated DNA on kinship classification success, as relevant in IGG. Reference data from manufacturer-recommended input DNA quality and quantity were used to estimate genotype accuracy in the compromised DNA samples and for simulating data of different degree relatives. Although stepwise decrease of input DNA amount from 200 nanogram to 6.25 picogram led to decreased SNP call rates and increased genotyping errors, kinship classification success did not decrease down to 250 picogram for siblings and 1st cousins, 1 nanogram for 2nd cousins, while at 25 picogram and below kinship classification success was zero. Stepwise decrease of input DNA quality via increased DNA fragmentation resulted in the decrease of genotyping accuracy as well as kinship classification success, which went down to zero at the average DNA fragment size of 150 base pairs. Combining decreased DNA quantity and quality in mock casework and skeletal samples further highlighted possibilities and limitations. Overall, GSA analysis achieved maximal kinship classification success from 800-200 times lower input DNA quantities than manufacturer-recommended, although DNA quality plays a key role too, while compromised DNA produced false negative kinship classifications rather than false positive ones.

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Section: Discussionmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

Vries¹,

Kling

Vidaki

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…Since experimental DNA degradation is artificial and does not resemble natural degradation processes, we additionally analyzed bone and tooth derived DNA samples from skeletal remains. These DNA samples naturally degraded under varying conditions and combine decreased DNA quantity and decreased quality, which is typical in missing person cases [52]. However, only a minority of the skeleton-derived naturally degraded DNA samples yielded high-enough call rates sufficient for concluding high genotype accuracy (two samples had call rate > 93%, two others were in the grey zone > 85% call rate).…”

Section: Discussionmentioning

confidence: 99%

Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

Vries

Kling

Vidaki

et al. 2022

Forensic Science International: Genetics

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“…STR-based DNA profiling has become the gold standard for identification purposes, especially for highly decomposed bodies or body fragments [1][2][3]. Fortunately, all human tissue contains cell nuclei and very small amounts can be used for DNA extraction [4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

The human intervertebral disc as a source of DNA for molecular identification

Becker

Mahlke

Ritz‐Timme

et al. 2021

Forensic Sci Med Pathol

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Genetic analyses such as STR-typing are routinely used for identification purposes in forensic casework. Although genotyping techniques only require a minimum amount of DNA to provide a genetic profile, DNA quality differs not only between but also within tissues during ongoing decomposition. Initiated by a recent case where, due to the constitution of the body, preferred tissue was not available or only resulted in a partial and not usable DNA profile, the analysis of intervertebral discs as a source of DNA was considered. As the analysis of this tissue resulted in a high quality DNA profile a further study was performed in which thirty intervertebral discs dissected from bodies in different stages of decay were analyzed. All samples yielded good quality DNA in quantities suitable for STR-based amplification with no or only low degradation indices, resulting in complete genetic profiles. These results demonstrate the robustness of human intervertebral disc tissue as a source of DNA for molecular identification purposes.

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Current and emerging tools for the recovery of genetic information from post mortem samples: New directions for disaster victim identification

Cited by 56 publications

References 262 publications

Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

Impact of SNP microarray analysis of compromised DNA on kinship classification success in the context of investigative genetic genealogy

The human intervertebral disc as a source of DNA for molecular identification

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