Reducing noise and stutter in short tandem repeat loci with unique molecular identifiers

Evaluation of ArmedXpert software tools, MixtureAce and Mixture Interpretation, to analyze MPS-STR data

“…Nor does the kit utilize molecular barcodes (also known as unique molecular identifier, UMI, a single molecule identifier) [12]. These can be used to reduce sequencing artifacts [35], as recently demonstrated, where UMIs together with an analysis tool, strumi, reduced noise and stutter in STR analysis [47].…”

Noninvasive Prenatal Paternity Testing with a Combination of Well-Established SNP and STR Markers Using Massively Parallel Sequencing

“…As the molecular architecture of STRs contributes to the generation of stutters [35], including more A-STRs to improve discriminating power may become a solution. Furthermore, a bioinformatics pipeline based on unique molecular identifier (UMI) technology was developed recently, which allows PCR or sequencing errors to be identified efficiently and, subsequently, increase the accuracy of allele interpretation during MPS-based STR genotyping [36]. Therefore, recruitment of this method in NIPPT with well-established STR markers could be conducted in the next step.…”

A comprehensive characterization of MPS-STR stutter artefacts

“…Young et al [12] briefly mentioned that stutters may also be the same length as the parental allele. In a recent publication, Woerner et al [55], considered n0 stutters as an example of "reciprocal slippage events". It is unclear what process leads to n0 stutters, but [29] hypothesized direct formation of the sequence from the parental allele in a single step.…”