A Continuous Statistical Phasing Framework for the Analysis of Forensic Mitochondrial DNA Mixtures.

ABSTRACT: Despite the benefits of quantitative data generated by massively parallel sequencing, resolving mitotypes from mixtures occurring in certain ratios remains challenging. In this study, a bioinformatic mixture deconvolution method centered on population-based phasing was developed and validated. The method was first tested on 270 in silico two-person mixtures varying in mixture proportions. An assortment of external reference panels containing information on haplotypic variation (from similar and different haplogroups) was leveraged to assess the effect of panel composition on phasing accuracy. Building on these simulations, mitochondrial genomes from the Human Mitochondrial DataBase were sourced to populate the panels and key parameter values were identified by deconvolving an additional 72

SUBMITTER: Smart U 

PROVIDER: S-EPMC7909279 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature