MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

(2014) Maria Angela Diroma et al.   BMC GENOMICS

MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis

(2013) Yan Guo et al.   BIOINFORMATICS

The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies

(2013) Hans-Jürgen Bandelt et al.   JOURNAL OF HUMAN GENETICS

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

(2012) Doron M. Behar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

(2011) Domenico Simone et al.   BMC GENOMICS

HmtDB, a genomic resource for mitochondrion-based human variability studies

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION