Match statistics for sequence‐based alleles in profiles from forensic PCR‐mps kits

Abstract

The first autosomal sequence‐based allele (aka SNP‐STR haplotype) frequency database for forensic massively parallel sequencing (MPS) has been published, thereby removing one of the remaining barriers to implementing MPS in casework. The database was developed using a specific set of flank trim sites. If different trim sites or different kits with different primers are used for casework, then SNP‐STR haplotypes may be detected that do not have frequencies in the database. We describe a procedure to address calculation of match probabilities when casework samples are generated using an MPS kit with different trim sites than those present in the relevant population frequency database. The procedure provides a framework for comparison of any MPS kit or database combination while also accommodating comparison of MPS and CE profiles.

The concordance of length- and sequence-based STRs used in forensic markers with guidance for practice

“…According to (16), ambiguous results can be introduced in many ways when comparing DNA sequences between data sets. Different genomic interval that included for the secondary analysis tool was one of the reasons, even though from the same library preparation kit.…”

“…Different genomic interval that included for the secondary analysis tool was one of the reasons, even though from the same library preparation kit. Analyzable regions were used for main forensic commercial kits, including the Forenseq® Signature prep kit (Verogen) to facilitate the implementation of NGS in forensic fields (16, 28). The STRinNGS v2.0 (12) was extended the analyzable regions and may require editing to fit the analyzable regions.…”

“…The road to implementing NGS technology is near and shows a promising future for forensic DNA analysis. An important milestone is establishing population data for STR markers (16). These population data were essentially built from high-quality and reliable sequencing data since these data will be applied for statistical probability or to calculate the strength of DNA evidence.…”

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

“…To aid interpretation of MPS-STR data, sensitivity studies were performed with single-source samples and sequence data analyzed by DNA quantity and method used [ 363 ]. A procedure has been described to address calculation of match probabilities when results are generated using MPS kits with different trim sites than those present in the relevant population frequency database [ 364 ]. Performance of different MPS kits, markers, or methods can be compared for accuracy and precision using the Levenshtein distance metric [ 365 ].…”