Forensic Science International-Genetics最新文献

Investigation into the genotyping performance of a unique molecular identifier based microhaplotypes MPS panel in complex DNA mixture

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-02-05 DOI: 10.1016/j.fsigen.2025.103236

Qiang Zhu , Haoyu Wang , Yuhan Hu, Yifan Wei, Yuting Wang, Tingyun Hou, Tiantian Shan, Xiaokang Zhang, Chun Yang, Yuntao Cai, Yufang Wang, Ji Zhang

In forensic science, genotyping mixed DNA is a critical and complex task. Sequencing errors and allele sharing complicate the analysis, particularly in cases involving unbalanced mixtures, multiple contributors, and kinship relationships. Massively parallel sequencing (MPS) panels comprising highly polymorphic microhaplotypes (MHs) offer a promising approach for detecting unique alleles in mixtures with a mixture ratio greater than 10:1, involving more than two contributors or contributors with kinship. However, sequencing errors such as base substitution and InDels on the MPS platform remain a significant challenge in genotyping complex mixed DNA. The barcoding approach has been introduced to MPS to distinguish true alleles from sequencing errors. This method employs unique molecular identifiers (UMIs) to tag individual DNA molecules, allowing for the identification and correction of random sequencing errors. By generating consensus sequences from read replicates associated with the same UMI, this approach enhances the accuracy of allele detection. In this study, UMIs were incorporated into developing a highly polymorphic panel consisting of 105 MHs, with an average effective number of alleles (Ae) of 6.9. Various types of mixed DNA samples were prepared, including unbalanced mixtures with ratios ranging from 1:1–160:1, multi-contributor mixtures with 2–6 contributors, and kinship-involved mixtures with parent-offspring to fourth-degree relatives contributors. Unique alleles were quantified, and mixture proportions (Mx) were calculated separately using sequencing reads and the number of UMI families with more than 10 members. The results demonstrated that UMI played a critical role in identifying sequencing errors and enhancing the accuracy of allele genotyping in unbalanced mixtures. A strong correlation (R² = 0.96) between UMI count and DNA template amount demonstrated that DNA template amount could be inferred from UMI count. Mx values derived from the number of UMIs were consistent across loci and showed a high correlation with mixture ratios (R² = 0.85). Additionally, the panel efficiently detected unique alleles across all three types of complex DNA mixtures. Overall, this study underscores the importance of UMIs in mitigating PCR and sequencing biases, thereby improving the performance of the MH-MPS panel for genotyping complex DNA mixtures. UMIs represent a valuable tool for mixed DNA genotyping and hold potential for boarder applications in probabilistic genotyping.

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引用次数: 0

Massively parallel sequencing of a forensic combined panel of 107-plex STR loci and 292-plex SNP loci in the Han Chinese population

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-02-04 DOI: 10.1016/j.fsigen.2025.103235

Weifen Sun , Bonan Dong , Xufeng Chu , Qiannan Xu , Hui Li , Man Chen , Lei Jiang , Ao Huang , Bofeng Zhu , Xiling Liu

Massively parallel sequencing (MPS), a well-established strategy for forensic DNA profiling, enables the simultaneous sequencing of multiple targeted loci of multiple samples at a single-base resolution with high coverage. In this study, we developed a novel typing system by combining solution-based hybrid capture methods with MPS to target as many as 107 short tandem repeats (STRs) and 292 single nucleotide polymorphisms (SNPs) in the Han Chinese population. Completely accurate and concordant STR genotypes were obtained when compared to typing results generated from conventional capillary electrophoresis analysis, with six loci exhibiting inferior performance due to allele dropout or even locus dropout. The locus detection success reached 85.2 % for STRs at a DNA input of 10 ng and 95.61 % for SNPs at a DNA input of 5 ng. Mixture studies substantiated the considerable potential of our system in identifying minor contributor alleles at both STR and SNP loci. Additionally, the system demonstrated full inferential abilities in distinguishing first-degree kinship from unrelated individual pairs and achieved significant effectiveness of 99.78 % and 80.2 % for the identification of second- and third-degree kinship, respectively. These findings indicated that our novel typing system is highly discriminative and informative when used in the Han Chinese population and would be highly efficient for use in paternity testing and complex kinship analysis.

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引用次数: 0

Preparing for shotgun sequencing in forensic genetics – Evaluation of DNA extraction and library building methods

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-02-01 DOI: 10.1016/j.fsigen.2025.103234

Marie-Louise Kampmann , Claus Børsting , Alberte Honoré Jepsen , Mikkel Meyer Andersen , Clara I.V. Aagreen , Brando Poggiali , Carina Grøntved Jønck , Niels Morling , Jeppe D. Andersen

Shotgun sequencing can be a powerful tool in forensic genetics, enabling comprehensive genetic analyses of biological samples for human identification (HID), forensic DNA phenotyping, ancestry inference, and forensic investigative genetic genealogy (FIGG). This study evaluated the performance of shotgun sequencing of typical forensic reference samples (whole blood or punches from FTA cards) extracted with four commonly used DNA extraction methods. The four DNA extraction methods were paired with three different library building methods to determine the best combination of procedures and their impact on the quality and quantity of the sequencing reads. Shotgun sequencing was performed on an Illumina NovaSeq 6000 system. The data was analysed for coverage, total number of reads, mapped reads, median insert size, and presence of forensically relevant loci, including short tandem repeats (STRs), ancestry informative markers (AIMs), single nucleotide polymorphisms (SNPs) associated with pigmentary traits (HIrisPlex-S), SNPs on the Y chromosome, and SNPs used for FIGG. The highest quality of sequencing data was achieved using the combination of EZ1&2 DNA Investigator Kit extractions and a double-stranded library building method, or the combination of Chelex® or PrepFiler Express™ Forensic DNA Extractions with a single-stranded library building protocol. The combination of EZ1&2 DNA extraction and double-stranded library building yielded the largest number of genotypes. As many as 36 STRs, 162 AIMs, 41 HIrisPlex-S SNPs, 85,712 Y-SNPs, and 1.3 million FIGG SNPs were genotyped in one experiment. On the contrary, the combination of Chelex® or PrepFiler™ together with a double-stranded library building method generated relatively few genotypes and low-quality results. The single-stranded library building protocol could be applied to EZ1&2 DNA Investigator Kit extractions of DNA on FTA cards but was inefficient and generated low-accuracy data when the sample material was whole blood. In conclusion, this study highlights the importance of combining the different forensic DNA extraction methods with appropriate shotgun sequencing library preparation approaches to optimise both the quantity and quality of forensically relevant DNA data.

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引用次数: 0

The IPEFA model: An initiative for online training and education as applied by the International Society for Forensic Genetics IPEFA 模式：国际法医遗传学协会采用的在线培训和教育倡议。

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-02-01 DOI: 10.1016/j.fsigen.2024.103115

Corina C.G. Benschop, Cíntia Alves, Leonor Gusmão

The IPEFA model was developed for organizing online training and education events as applied by the International Society for Forensic Genetics (ISFG). It consists of five phases: 1) Input, 2) Preparation, 3) Execution, 4) Feedback, and 5) Assessment. This document details these phases and shows IPEFA’s first practical application to the 2023 edition of the virtual ISFG Summer School. Through sharing the experiences, we aim to provide transparency and engage with potential participants and teachers to (virtual) training and education events as organized by the ISFG. The model may also be useful for others organizing (online) events. We have experienced that evaluation of events with input and feedback from both the (potential) participants and teachers is essential for successful training and education. This takes time which is limited in everyone’s busy agenda’s and may therefore not always be performed with the care it requires. Since these aspects are crucial, however, we aim to keep following the principles as outlined in the IPEFA model.

IPEFA 模式是国际法医遗传学协会（ISFG）为组织在线培训和教育活动而开发的。它包括五个阶段：1) 输入、2) 准备、3) 执行、4) 反馈和 5) 评估。本文件详细介绍了这些阶段，并展示了 IPEFA 在 2023 年虚拟 ISFG 夏季学校中的首次实际应用。通过分享经验，我们的目标是提供透明度，让潜在的参与者和教师参与到由 ISFG 组织的（虚拟）培训和教育活动中来。这种模式对其他组织（在线）活动的人也可能有用。我们的经验是，根据（潜在）参与者和教师的意见和反馈对活动进行评估，对于成功开展培训和教育活动至关重要。这需要时间，而在每个人繁忙的日程表中，时间是有限的，因此可能并不总是能得到应有的重视。然而，由于这些方面至关重要，我们的目标是继续遵循 IPEFA 模式所概述的原则。

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引用次数: 0

X-chromosomal STRs: Metapopulations and mutation rates

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-01-27 DOI: 10.1016/j.fsigen.2025.103232

L. Gusmão , S. Antão-Sousa , M. Faustino , M.A. Abovich , D. Aguirre , R. Alghafri , C. Alves , A. Amorim , C. Arévalo , L. Baldassarri , C. Barletta-Carrillo , G. Berardi , C. Bobillo , L. Borjas , D.F. Braganholi , A. Brehm , J.J. Builes , L. Cainé , E.F. Carvalho , M. Carvalho , N. Pinto

The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10⁻⁴ (DXS7133) and 1.07x10⁻² (DXS10135), being 5.2 times higher in the male (4.16 ×10⁻³) than in the female (8.01 ×10⁻⁴) germline.

{"title":"X-chromosomal STRs: Metapopulations and mutation rates","authors":"L. Gusmão , S. Antão-Sousa , M. Faustino , M.A. Abovich , D. Aguirre , R. Alghafri , C. Alves , A. Amorim , C. Arévalo , L. Baldassarri , C. Barletta-Carrillo , G. Berardi , C. Bobillo , L. Borjas , D.F. Braganholi , A. Brehm , J.J. Builes , L. Cainé , E.F. Carvalho , M. Carvalho , N. Pinto","doi":"10.1016/j.fsigen.2025.103232","DOIUrl":"10.1016/j.fsigen.2025.103232","url":null,"abstract":"<div><div>The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10<sup>−4</sup> (DXS7133) and 1.07x10<sup>−2</sup> (DXS10135), being 5.2 times higher in the male (4.16 ×10<sup>−3</sup>) than in the female (8.01 ×10<sup>−4</sup>) germline.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103232"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Current progress and future perspectives in personal identification of monozygotic twins in forensic medicine

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-01-27 DOI: 10.1016/j.fsigen.2025.103231

Ming-hui Liu , Xi Xia , Yi-long Wang , Dan-yang Wang , Si-wen Wang , Yun-zhou Chen , Mao-ling Sun , Jia-xin Xing , Jin-feng Xuan , Jun Yao

The personal identification of monozygotic (MZ) twins is of great importance in forensic medicine. Due to the extreme similarity in genetic between MZ twins, it is challenging to differentiate them using autosomal STR genotyping. Forensic experts are striving to explore available genetic markers that can differentiate between MZ twins. With the advent of next-generation sequence (NGS), an increasing number of genetic markers have been demonstrated to effectively differentiate between MZ twins. Here, we summarized for the relevant studies on MZ twins’ differentiation and discussed the limitations of the underlying markers. In details, single-nucleotide variants (SNVs), copy number variation (CNV), mitochondrial DNA (mtDNA), DNA methylation, and non-coding RNA have been demonstrated considerable value. Furthermore, the utilization of proteomics, metabolomics, and microbiomics has shed light on MZ twin differentiation. Additionally, we introduce the methodologies for MZ differentiation based on external morphological variations observed in the human body. Looking to the future, the process of aging may represent a novel avenue for the differentiation of MZ twins.

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引用次数: 0

Ethical and security challenges in AI for forensic genetics: From bias to adversarial attacks

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-01-27 DOI: 10.1016/j.fsigen.2025.103225

Franco Marsico , Martin Amigo

Forensic scientists play a crucial role in assigning probabilities to evidence based on competing hypotheses, which is fundamental in legal contexts where propositions are presented usually by prosecution and defense. The likelihood ratio (LR) is a well-established metric for quantifying the statistical weight of the evidence, facilitating the comparison of probabilities under these hypotheses. Developing accurate LR models is inherently complex, as it relies on cumulative scientific knowledge. Ensuring transparency and rigor in these models is essential for building trust and fostering broader adoption. This is especially true in forensic genetics, where LRs are widely applied. Recently, the integration of Artificial Intelligence (AI), especially deep learning and machine learning, has introduced novel methods for predicting physical traits, ancestry, and age. However, unlike traditional approaches, many of these AI-driven methods function as “black boxes”, raising concerns within the forensic community about potential biases, accountability, adversarial effects and other phenomena that could lead to erroneous outcomes. In this study, we use simulated scenarios as a proof-of-concept to illustrate two common applications of AI methods: (i) prediction of biogeographical ancestry and (ii) kinship inference. We critically examine cases where AI models can mislead forensic interpretation, which represents ethical and security challenges. We emphasize the need for rigorous evaluation and ethical oversight in the application of these methods.

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引用次数: 0

Profiling microRNA expression differentiates monozygotic twins in peripherical blood by droplet digital PCR

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-01-25 DOI: 10.1016/j.fsigen.2025.103230

Dan-yang Wang , Mei-hui Tian , Yun-zhou Chen , Si-wen Wang , Xin-yu Xing , Mao-ling Sun , Zhenze Liu , Yalin Liu , Hongbo Wang , Jiayi Wei , Yang Zhong , Jun Yao

It is challenging to distinguish monozygotic (MZ) twins using traditional autosomal STR genotyping due to their nearly identical genomes. As an important kind of small non-coding RNAs, microRNAs (miRNAs) are essential regulators of gene expression and considered as excellent biomarkers due to their resistance to degradation. Moreover, droplet digital PCR (ddPCR) has emerged as a powerful technique for detecting gene mutations and pathogenic microorganisms, owing to its sensitivity and reliability. We aimed to explore the differential expression of miRNAs between MZ twins using next-sequence platform and assess the reliability of differentially expressed miRNAs by ddPCR. MiRNA sequencing (miRNA-seq) revealed nine differentially expressed miRNAs shared across five pairs of twins, including hsa-miR-3620-3p, hsa-miR-6825-5p, hsa-miR-1273h-5p, hsa-miR-200a-5p, hsa-miR-3192-5p, hsa-miR-188-5p, hsa-miR-206, hsa-miR-4796-5p, and hsa-miR-6775-3p. Subsequently, the combination of real-time quantitative PCR (qPCR) and ddPCR confirmed the ability of five of these miRNAs (hsa-miR-1273h-5p, hsa-miR-3192-5p, hsa-miR-188-5p, hsa-miR-206, and hsa-miR-6775-3p) in distinguishing monozygotic twins. Furthermore, ddPCR demonstrated superior recognition accuracy compared to qPCR. Finally, we evaluated the degradation resistance of these five miRNAs under different environmental conditions. None of the five miRNAs showed a significant decrease in expression levels after being stored at room temperature for up to 180 days or undergoing 10 freeze-thaw cycles. In summary, our study revealed the potential application of miRNAs in differentiation of MZ twins and the powerful role of ddPCR in forensic medicine.

{"title":"Profiling microRNA expression differentiates monozygotic twins in peripherical blood by droplet digital PCR","authors":"Dan-yang Wang , Mei-hui Tian , Yun-zhou Chen , Si-wen Wang , Xin-yu Xing , Mao-ling Sun , Zhenze Liu , Yalin Liu , Hongbo Wang , Jiayi Wei , Yang Zhong , Jun Yao","doi":"10.1016/j.fsigen.2025.103230","DOIUrl":"10.1016/j.fsigen.2025.103230","url":null,"abstract":"<div><div>It is challenging to distinguish monozygotic (MZ) twins using traditional autosomal STR genotyping due to their nearly identical genomes. As an important kind of small non-coding RNAs, microRNAs (miRNAs) are essential regulators of gene expression and considered as excellent biomarkers due to their resistance to degradation. Moreover, droplet digital PCR (ddPCR) has emerged as a powerful technique for detecting gene mutations and pathogenic microorganisms, owing to its sensitivity and reliability. We aimed to explore the differential expression of miRNAs between MZ twins using next-sequence platform and assess the reliability of differentially expressed miRNAs by ddPCR. MiRNA sequencing (miRNA-seq) revealed nine differentially expressed miRNAs shared across five pairs of twins, including hsa-miR-3620-3p, hsa-miR-6825-5p, hsa-miR-1273h-5p, hsa-miR-200a-5p, hsa-miR-3192-5p, hsa-miR-188-5p, hsa-miR-206, hsa-miR-4796-5p, and hsa-miR-6775-3p. Subsequently, the combination of real-time quantitative PCR (qPCR) and ddPCR confirmed the ability of five of these miRNAs (hsa-miR-1273h-5p, hsa-miR-3192-5p, hsa-miR-188-5p, hsa-miR-206, and hsa-miR-6775-3p) in distinguishing monozygotic twins. Furthermore, ddPCR demonstrated superior recognition accuracy compared to qPCR. Finally, we evaluated the degradation resistance of these five miRNAs under different environmental conditions. None of the five miRNAs showed a significant decrease in expression levels after being stored at room temperature for up to 180 days or undergoing 10 freeze-thaw cycles. In summary, our study revealed the potential application of miRNAs in differentiation of MZ twins and the powerful role of ddPCR in forensic medicine.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103230"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From dual nucleic acid co-extraction to co-sequencing: A highly integrated next-generation forensic DNA and RNA sequencing experimental workflow

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-01-25 DOI: 10.1016/j.fsigen.2025.103229

Lei Miao , Dan-Ni Lou , Ke-Lai Kang , Yi-Xia Zhao , Chi Zhang , Jie Zhao , Sheng Hu , Le Wang

DNA and RNA markers are significant in forensic practices, such as individual and body fluid identification. However, forensic DNA and RNA markers were separately analyzed in most forensic experiments, which resulted in large amounts of sample consumption, complex procedures, and weak inter-evidence correlation. While several integrated methods based on capillary electrophoresis and next-generation sequencing technologies were reported, integrated procedures were mostly on nucleic acid co-extraction, co-electrophoresis, or co-sequencing, and the number and type of markers co-tested were limited. Four studies were conducted in this work to co-analyze DNA and RNA with a highly integrated next-generation sequencing-based workflow. First, six commercial kits for DNA and RNA co-extraction were compared, and two kits more suitable for total nucleic acid extraction were selected. Second, the feasibility of an experimental methodology for reverse transcription with total nucleic acid was investigated, and the results showed that reverse transcription reactions have no significant impact on DNA fragments used for forensic short tandem repeat and single nucleotide polymorphism genotyping. Third, a method for DNA and RNA library co-preparation was developed. Through the three studies, a highly integrated experimental workflow for targeted next-generation DNA and RNA sequencing was developed, including DNA and RNA co-extraction, reverse transcription with total nucleic acid, library co-preparation with genomic DNA and complementary DNA, co-sequencing, and data analysis. Fourth, to evaluate the workflow, we developed a multiplex panel consisting of 55 DNA markers (10 autosomal short tandem repeats and 45 autosomal single nucleotide polymorphisms) and eight messenger RNA markers (two peripheral blood-specific, four saliva-specific, and two housekeeping markers), and carried out validation experiments. High accuracy of DNA genotypes and RNA expression results were observed. Taken together, the novel integrated workflow could be used to sequence forensic DNA and RNA markers, which provides a promising method to comprehensively reveal DNA and RNA bioinformation with limited crime scene bio-materials.

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引用次数: 0

Evaluating genome-wide and targeted forensic sequencing approaches to kinship determination

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-01-21 DOI: 10.1016/j.fsigen.2025.103228

Margherita Colucci , Jon H. Wetton , Burkhard Rolf , Nuala Sheehan , Mark A. Jobling

Kinship determination is a valuable tool in forensic genetics, with applications including familial searching, disaster victim identification, and investigative genetic genealogy. Conventional typing of small numbers of autosomal short tandem repeats (STRs) confidently identifies only first-degree relatives. Massively parallel sequencing (MPS) can access more STRs and resolve alleles identical by length but differing in sequence (isoalleles), which may increase the power of kinship estimation, particularly when combined with additional sequenced single nucleotide polymorphism (SNP) loci, as in the ForenSeq DNA Signature Prep kit. MPS sequencing of ∼10,000 SNPs is available in the ForenSeq Kintelligence kit, promising detection of more distant kin, while SNP chips carrying hundreds of thousands of markers increase resolution still further. Here we evaluate these different resolutions in a set of pedigrees, and via simulations. As expected, the key factor influencing the precision of kinship estimation is the number of markers analysed and MPS-based analysis of STRs increases resolution, with the full set of ForenSeq DNA Signature Prep kit markers allowing detection of third-degree relatives. Since SNP chips include non-autosomal (X- and Y-chromosomal, and mitochondrial [mtDNA]) markers, we ask how these perform within the pedigrees, cross-referencing to Y-STR sequence data. We highlight the importance of understanding haplogroup resolutions in the increasingly complex Y and mtDNA phylogenies, to avoid false exclusions. Incorporation of X-SNPs allows tracing of X-chromosome segments within families. These different approaches can add value to kinship estimation, but some require simpler bioinformatic interfaces to make them more widely accessible in practice, and also access to appropriate allele frequency data to avoid problems associated with ancestry mis-specification.

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引用次数: 0