Deconvolving DNA mixtures with Demixtify.

While there are many tools to detect DNA mixtures, few can deconvolve mixed genetic profiles at genomic scales. Demixtify is one such application. Demixtify characterizes and deconvolves DNA mixtures in whole genome sequencing data. Demixtify is also fully amenable to modern imputation strategies, which in turn allows samples to be accurately characterized even when the information content is limited (<1×). In the present study Demixtify is applied to two-person in silico DNA mixtures. Genotypes are often accurately inferred, with noticeable increases in performance when genotypes are also refined. Likewise, kinship coefficients and IBD segments are generally well-recovered, especially in imbalanced mixtures. Last, a high throughput (~30×), highly imbalanced DNA mixture (~0.7%) in a public genomic resource is deconvolved and the minor contributor is traced to another individual in the study.