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Estimating Individual Contributions to Complex DNA SNP Mixtures

View ORCID ProfileDarrell O. Ricke, Philip Fremont-Smith, James Watkins, Tara Boettcher, Eric Schwoebel
doi: https://doi.org/10.1101/391086
Darrell O. Ricke
Bioengineering Systems & Technologies, Massachusetts Institute of Technology Lincoln Laboratory Lexington, MA USA
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Philip Fremont-Smith
Bioengineering Systems & Technologies, Massachusetts Institute of Technology Lincoln Laboratory Lexington, MA USA
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James Watkins
Bioengineering Systems & Technologies, Massachusetts Institute of Technology Lincoln Laboratory Lexington, MA USA
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Tara Boettcher
Bioengineering Systems & Technologies, Massachusetts Institute of Technology Lincoln Laboratory Lexington, MA USA
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Eric Schwoebel
Bioengineering Systems & Technologies, Massachusetts Institute of Technology Lincoln Laboratory Lexington, MA USA
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ABSTRACT

Mixture analysis and deconvolution methods can identify both known and unknown individuals contributing to DNA mixtures. These methods may not identify all DNA contributors with the remaining fraction of the mixture being contributed by one or more unknown individuals. The proportion of DNA contributed by individuals to a forensic sample can be estimated using their quantified mixture alleles. For short tandem repeats (STRs), methods to estimate individual contribution concentrations compare capillary electrophoresis peak heights and or peak areas within a mixture. For single nucleotide polymorphisms (SNPs), the major:minor allele ratios or counts, unique to each contributor, can be compared to estimate contributor proportion within the mixture. This article introduces three approaches (mean, median, and slope methods) for estimating individual DNA contributions to forensic mixtures for high throughput sequencing (HTS)/massively parallel sequencing (MPS) SNP panels.

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Posted October 12, 2018.
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Estimating Individual Contributions to Complex DNA SNP Mixtures
Darrell O. Ricke, Philip Fremont-Smith, James Watkins, Tara Boettcher, Eric Schwoebel
bioRxiv 391086; doi: https://doi.org/10.1101/391086
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Estimating Individual Contributions to Complex DNA SNP Mixtures
Darrell O. Ricke, Philip Fremont-Smith, James Watkins, Tara Boettcher, Eric Schwoebel
bioRxiv 391086; doi: https://doi.org/10.1101/391086

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