HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

(2016) Lishuang Shen et al.   HUMAN MUTATION

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

(2015) Mariangela Santorsola et al.   HUMAN GENETICS

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

(2015) Marni J. Falk et al.   MOLECULAR GENETICS AND METABOLISM

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

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

(2014) Claudia Calabrese et al.   BIOINFORMATICS

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

(2014) Maria Angela Diroma et al.   BMC GENOMICS

Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals

(2014) K. Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families

(2013) Juanjuan Zhang et al.   MITOCHONDRION

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

A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function

(2011) G. Gasparre et al.   CANCER RESEARCH

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

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

Was North Africa the Launch Pad for Modern Human Migrations?

(2011) M. Balter   SCIENCE

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system

(2010) Sha Tang et al.   BIOTECHNIQUES

Mitochondrial DNA mutations in disease and aging

(2010) Douglas C. Wallace   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

(2010) Michael V. Zaragoza et al.   PLoS One

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity

(2009) Anna Ghelli et al.   PLoS One

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION