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Updated: Feb 23, 2026

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Published on: September 18, 2009
Characterizing DNA mixtures with Demixtify
August E Woerner1, Benjamin Crysup1, Michael D Coble1
1Center for Human Identification, University of North Texas Health Science Center., 3500 Camp Bowie Blvd, Fort Worth, TX 76107, USA; Department of Microbiology, Immunology, and Genetics, University of North Texas Health Science Center, USA.
Abstract:
Driven largely by forensic investigative genetic genealogy, whole genome sequencing (WGS) technologies are undergoing rapid adoption by the forensic community. While many tools for interpreting WGS data are readily drawn from the medical genomics communities, software for evaluating DNA mixtures is notably lacking, especially with low-quantity samples. We present Demixtify, a tool for detecting and characterizing DNA mixtures. Genetic analyses were conducted considering a broad range of population groups, coverages and mixture proportions (MPs). These analyses show that estimation of the MP is sensitive to the source population, but mixture detection (down to 0.01×) is less sensitive to these effects. Careful selection of genetic markers can mitigate the effects of population demographics on proportion estimation.
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