Interpretation and reporting of mixed DNA profiles by seven forensic laboratories in the UK and Ireland

Mallinder, Ben; Pope, Susan; Thomson, J. Arthur; Beck, L A; McDonald, Andrew J.; Ramsbottom, Dorothy; Court, Denise Syndercombe; Vanhinsbergh, Des; Barber, Michael; Evett, I.W.; Sullivan, Kevin F.; Whitaker, Jonathan

doi:10.1016/j.fsigen.2022.102674

Cited by 4 publications

(3 citation statements)

References 12 publications

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“…TRs are highly polymorphic, making them a major source of diversity in human genomes (Jeffreys et al 1985). In fact, as few as 13 STRs in North America and 17 STRs in the United Kingdom, can uniquely identify a person (Hammond et al 1994; Opel et al 2007; Glynn 2022; Mallinder et al 2022). Due to the high genetic variability and lack of linkage disequilibrium with each other, the probability of two unrelated individuals sharing a perfect match of this set of STRs is less than 1 in 1 billion (Reilly 2001).…”

Section: Introductionmentioning

confidence: 99%

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

Zhang,

Hulsman,

Salazar

et al. 2024

Preprint

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Tandem repeats (TRs) constitute a significant portion of the human genome, exhibiting high levels of polymorphism due to variations in size and motif composition. These variations have been associated with various neuropathological disorders, underscoring the clinical importance of TRs. Furthermore, the motif structure of these repeats can offer valuable insights into evolutionary dynamics and population structure. However, analysis of TRs has been hampered by the limitations of short-read sequencing technology, which lacks the ability to fully capture the complexity of these sequences. With long-read data becoming more accessible, there is now also a need for tools to explore and characterize these TRs. In this study, we introduce MotifScope, a novel algorithm for visualization of TRs in their population context based on a de novo k-mer approach for motif discovery. Comparative analysis against three established tools, uTR, TRF, and vamos, reveals that MotifScope can identify a greater number of motifs and more accurately represent the actual repeat sequence. Additionally, MotifScope enables comparison of sequencing reads within an individual and assemblies across different individuals, showing its applicability in diverse genomic contexts. We demonstrate potential applications of MotifScope in diverse fields, including population genetics, clinical settings, and forensic analyses.

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Section: Introductionmentioning

confidence: 99%

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

Zhang,

Hulsman,

Salazar

et al. 2024

Preprint

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“…are obtained, analyzing the results can be complicated due to the presence of multiple mixed components or the dominance of the female component [3]. In the statistical analysis of peak height and peak area of the short tandem repeat (STR) typing analysis, factors such as DNA concentration and the proportion of mixed samples can impact the results, making it difficult to eliminate the influence of shadow bands, nonspecific bands, amplification imbalance, and allele imbalance [4,5]. Through the statistical analysis of mixed DNA profiles, it becomes possible to interpret the potential STR genotypes of each individual [5,6].…”

Section: Introductionmentioning

confidence: 99%

“…In the statistical analysis of peak height and peak area of the short tandem repeat (STR) typing analysis, factors such as DNA concentration and the proportion of mixed samples can impact the results, making it difficult to eliminate the influence of shadow bands, nonspecific bands, amplification imbalance, and allele imbalance [4,5]. Through the statistical analysis of mixed DNA profiles, it becomes possible to interpret the potential STR genotypes of each individual [5,6]. Additionally, Y-STR profiles can be assessed using a likelihood ratio method [7], although personal identification is not always possible.…”

Section: Introductionmentioning

confidence: 99%

Separation mixed semen of two individuals using magnetic beads coupled ABH blood group antibody

Yao,

Adnan,

Wang

2023

Electrophoresis

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In sexual assault cases, one of the most common samples collected is a mixed semen stain, which is often found on the vagina, female underwear, or bed sheets. However, it is usually difficult to identify the perpetrator based on this sample alone. One technique that has been developed to address this issue is magnetic bead‐based separation. This method involves using modified magnetic microspheres to capture and enrich specific target cells, in this case, sperm cells. In this study, we utilized magnetic beads coupled with ABH blood group antibody to isolate sperm cells from an individual of a single ABO blood type. Subsequently, polymerase chain reaction amplification and capillary electrophoresis were employed to perform the genotyping the short tandem repeat (STR) loci. This approach allows for the identification of different individuals in a mixed seminal stain sample from two individuals, by first separating sperm cells based on ABH antigen differences and subsequently utilizing autosomal STR typing on the enriched single blood group cells.

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Variation in assessments of suitability and number of contributors for DNA mixtures

Hicklin

Richetelli

Emerick

et al. 2023

Forensic Science International: Genetics

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Interpretation and reporting of mixed DNA profiles by seven forensic laboratories in the UK and Ireland

Cited by 4 publications

References 12 publications

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

Separation mixed semen of two individuals using magnetic beads coupled ABH blood group antibody

Variation in assessments of suitability and number of contributors for DNA mixtures

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