Current Status of the Use of Single-Nucleotide Polymorphisms in Forensic Practices

Cantürk, Kemal Murat; Kınoğlu, Kubilay; Başpınar, Bünyamin; Sahin, Feyzi; Özen, Mustafa

doi:10.1089/gtmb.2013.0466

“…In archaeology, the analysis of IBD has the potential to provide an independent means to test kinship behavior and social organization [ 22 , 23 ], but current methods would be restricted to exceptionally well-preserved samples. In forensic science and practice, the dominant approach has been to type several short tandem repeat (STR) markers, which in most cases provide sufficient information for relatedness assessment, but the STRs might be hard to type in degraded samples [ 24 ]. In addition to nuclear STRs, mitochondrial and Y-chromosome haplogroups have been widely used to infer family relationships (e.g.…”

Section: Introductionmentioning

confidence: 99%

Estimating genetic kin relationships in prehistoric populations

Kuhn

¹

,

Jakobsson

²

,

Günther

³

2018

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Archaeogenomic research has proven to be a valuable tool to trace migrations of historic and prehistoric individuals and groups, whereas relationships within a group or burial site have not been investigated to a large extent. Knowing the genetic kinship of historic and prehistoric individuals would give important insights into social structures of ancient and historic cultures. Most archaeogenetic research concerning kinship has been restricted to uniparental markers, while studies using genome-wide information were mainly focused on comparisons between populations. Applications which infer the degree of relationship based on modern-day DNA information typically require diploid genotype data. Low concentration of endogenous DNA, fragmentation and other post-mortem damage to ancient DNA (aDNA) makes the application of such tools unfeasible for most archaeological samples. To infer family relationships for degraded samples, we developed the software READ (Relationship Estimation from Ancient DNA). We show that our heuristic approach can successfully infer up to second degree relationships with as little as 0.1x shotgun coverage per genome for pairs of individuals. We uncover previously unknown relationships among prehistoric individuals by applying READ to published aDNA data from several human remains excavated from different cultural contexts. In particular, we find a group of five closely related males from the same Corded Ware culture site in modern-day Germany, suggesting patrilocality, which highlights the possibility to uncover social structures of ancient populations by applying READ to genome-wide aDNA data. READ is publicly available from https://bitbucket.org/tguenther/read.

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“…National offender databases now have a total of about 50 million profiles, although the possibility of conducting numerical experiments on those data [1] in order to address issues such as the dependencies of matching probabilities among loci [2] is presently limited to very few countries. Forensic science is turning attention to large-scale genetic data, such as those provided for single nucleotide polymorphisms (SNPs) from chip-array technology [3] or single nucleotide variants (SNVs) from next-generation sequencing (NGS) [4]. The 1000 Genomes project, www.1000genomes.org, has already published whole-genome sequence data that includes over 78 million SNPs.…”

Section: Introductionmentioning

confidence: 99%

SNPs and SNVs in forensic science

Weir

¹

,

Zheng

²

2015

Forensic Science International: Genetics Supplement Series

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The utility of short tandem repeat genetic (STR) markers for forensic science is beyond question and there are over 50 million STR profiles in current national databases. The magnitude and value of those data, however, are likely to be dwarfed by what is emerging from large-scale SNP and DNA sequence assays. Phenotypic characterization may well accompany future statements about identity. In this very brief review we focus on the use of rare variants to describe relatedness and population structure.

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“…In 24 archaeology, the analysis of IBD has the potential to provide an independent means to 25 test kinship behavior and social organization [22], but current methods would be 26 restricted to exceptionally well-preserved samples. In forensic science and practice, the 27 dominant approach has been to type several short tandem repeat (STR) markers, which 28 in most cases provide sufficient information for relatedness assessment, but the STRs 29 might be hard to type in degraded samples [23]. In addition to nuclear STRs, 30 mitochondrial and Y-chromosome haplogroups have been widely used to infer family 31 relationships (e.g.…”

mentioning

confidence: 99%

Estimating Genetic Kin Relationships in Prehistoric Populations

Kuhn

¹

,

Jakobsson

²

,

Günther

³

2017

Preprint

View full text Add to dashboard Cite

Archaeogenomic research has proven to be a valuable tool to trace migrations of historic and prehistoric individuals and groups, whereas relationships within a group or burial site have not been investigated to a large extent. Knowing the genetic kinship of historic and prehistoric individuals would give important insights into social structures of ancient and historic cultures. Most archaeogenetic research concerning kinship has been restricted to uniparental markers, while studies using genome-wide information were mainly focused on comparisons between populations. Applications which infer the degree of relationship based on modern-day DNA information typically require diploid genotype data. Low concentration of endogenous DNA, fragmentation and other post-mortem damage to ancient DNA (aDNA) makes the application of such tools unfeasible for most archaeological samples. To infer family relationships for degraded samples, we developed the software READ (Relationship Estimation from Ancient DNA). We show that our heuristic approach can successfully infer up to second degree relationships with as little as 0.1x shotgun coverage per genome for pairs of individuals. We uncover previously unknown relationships among prehistoric individuals by applying READ to published aDNA data from several human remains excavated from different cultural contexts. In particular, we find a group of five closely related males from the same Corded Ware culture site in modern-day Germany, suggesting patrilocality, which highlights the possibility to uncover social structures of ancient populations by applying READ to genome-wide aDNA data.

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Current Status of the Use of Single-Nucleotide Polymorphisms in Forensic Practices

Cited by 26 publications

References 56 publications

Estimating genetic kin relationships in prehistoric populations

Estimating genetic kin relationships in prehistoric populations

SNPs and SNVs in forensic science

Estimating Genetic Kin Relationships in Prehistoric Populations

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