Developmental validation of FaSTR™ DNA: Software for the analysis of forensic DNA profiles

Lin, Ming-Huei; Lee, Shan-I; Zhang, Xinlong; Russell, Laura; Kelly, Hannah; Cheng, Kevin; Cooper, Stuart L.; Wivell, Richard; Kerr, Zane; Morawitz, Judi; Bright, Jo‐Anne

doi:10.1016/j.fsir.2021.100217

Cited by 4 publications

(4 citation statements)

References 35 publications

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“…There were nine different contributors to the 46 profiles. Profiles were analyzed using FaSTR DNA™ [9] and the number of contributors ( N ) assigned using the default decision tree method [10]. In addition, N was assigned manually by a trained analyst.…”

Section: Methodsmentioning

confidence: 99%

Exploring likelihood ratios assigned for siblings of the true mixture contributor as an alternate contributor

Kelly

Coble

Kruijver

et al. 2022

Journal of Forensic Sciences

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Relatives tend to have more DNA in common than unrelated people. The closer the biological relationship, the higher the chance of alleles being identical by descent between the individuals. Therefore, when considering a mixed DNA profile, close relatives of the true contributor may not always be excluded as a possible contributor to a mixture due to allele sharing. In these situations, it might be more appropriate under the alternate proposition to consider that the DNA could have originated from a relative of the person of interest rather than an unrelated individual. The probabilistic genotyping software STRmix™ automatically provides LRs considering close biological relatives as alternate sources of the DNA. In this paper, we investigate the support for siblings of the true contributor to a mixture (who are not present in the mixture themselves). We interpret the mixtures and assign LRs using STRmix™ and investigate whether the resulting LRs could be used to indicate whether the true contributor could be a sibling of the POI. Most siblings will have one or more alleles that are not observed in the mixture profile. Support for siblings to have contributed can only occur when allelic dropout is a possibility at the loci where the siblings have alleles that are not observed in the profile. In these data, that was only observed in components with assigned template of 588 rfu or less.

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Section: Methodsmentioning

confidence: 99%

Exploring likelihood ratios assigned for siblings of the true mixture contributor as an alternate contributor

Kelly

Coble

Kruijver

et al. 2022

Journal of Forensic Sciences

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“…In the yellow channel, a dye blob artifact near Y01-2 at ~80 bp (100-300 RFUs in height) was often observed. However, the threshold did not need to be adjusted because this dye blob artifact could be easily identified and filtered out due to its characteristic wide peak morphology [39]. profiles with 32 pg of input DNA [40].…”

Section: Validation Experimentsmentioning

confidence: 99%

Development of a novel five‐dye panel for human identification insertion/deletion (INDEL) polymorphisms

Avellaneda,

Johnson,

Gutierrez

et al. 2024

Journal of Forensic Sciences

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DNA analysis of forensic case samples relies on short tandem repeats (STRs), a key component of the combined DNA index system (CODIS) used to identify individuals. However, limitations arise when dealing with challenging samples, prompting the exploration of alternative markers such as single nucleotide polymorphisms (SNPs) and insertion/deletion (INDELs) polymorphisms. Unlike SNPs, INDELs can be differentiated easily by size, making them compatible with electrophoresis methods. It is possible to design small INDEL amplicons (<200 bp) to enhance recovery from degraded samples. To this end, a set of INDEL Human Identification Markers (HID) was curated from the 1000 Genomes Project, employing criteria including a fixation index (FST) ≤ 0.06, minor allele frequency (MAF) >0.2, and high allele frequency divergence. A panel of 33 INDEL‐HIDs was optimized and validated following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines, utilizing a five‐dye multiplex electrophoresis system. A small sample set (n = 79 unrelated individuals) was genotyped to assess the assay's performance. The validation studies exhibited reproducibility, inhibition tolerance, ability to detect a two‐person mixture from a 4:1 to 1:6 ratio, robustness with challenging samples, and sensitivity down to 125 pg of DNA. In summary, the 33‐loci INDEL‐HID panel exhibited robust recovery with low‐template and degraded samples and proved effective for individualization within a small sample set.

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“…Machine learning approaches are being applied to classify artifacts versus alleles with the goal to eventually replace manual data interpretation with computer algorithms [ [254] , [255] , [256] , [257] ]. One such program, FaSTR DNA, enables potential artifact peaks from stutter, pull-up, and spikes to be filtered or flagged, and a developmental validation has been published examining 3403 profiles generated with seven different STR kits [ 258 ].…”

Section: Advancements In Current Practicesmentioning

confidence: 99%

Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

Butler

2023

Forensic Science International: Synergy

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Developmental validation of FaSTR™ DNA: Software for the analysis of forensic DNA profiles

Cited by 4 publications

References 35 publications

Exploring likelihood ratios assigned for siblings of the true mixture contributor as an alternate contributor

Exploring likelihood ratios assigned for siblings of the true mixture contributor as an alternate contributor

Development of a novel five‐dye panel for human identification insertion/deletion (INDEL) polymorphisms

Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

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