Concept for estimating mitochondrial DNA haplogroups using a maximum likelihood approach (EMMA).

ABSTRACT: The assignment of haplogroups to mitochondrial DNA haplotypes contributes substantial value for quality control, not only in forensic genetics but also in population and medical genetics. The availability of Phylotree, a widely accepted phylogenetic tree of human mitochondrial DNA lineages, led to the development of several (semi-)automated software solutions for haplogrouping. However, currently existing haplogrouping tools only make use of haplogroup-defining mutations, whereas private mutations (beyond the haplogroup level) can be additionally informative allowing for enhanced haplogroup assignment. This is especially relevant in the case of (partial) control region sequences, which are mainly used in forensics. The present study makes three major contributions toward a more reliable, s

SUBMITTER: Rock AW 

PROVIDER: S-EPMC3819997 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature