Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

(2013) Sha Tang et al.   HUMAN MUTATION

Whole-Exome Sequencing Identifies a Variant of the MitochondrialMT-ND1Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

(2013) Aitor Delmiro et al.   HUMAN MUTATION

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

(2013) Vivienne C.M. Neeve et al.   MITOCHONDRION

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

(2013) Amanda Ramos et al.   PLoS One

Finding the lost treasures in exome sequencing data

(2013) David C. Samuels et al.   TRENDS IN GENETICS

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

(2012) Gavin Hudson et al.   ANNALS OF THE RHEUMATIC DISEASES

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

(2012) Beril Talim et al.   BRAIN

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Universal heteroplasmy of human mitochondrial DNA

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

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

(2012) Rita Horvath et al.   MOVEMENT DISORDERS

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency

(2012) Maria Ximena Sosa et al.   PLoS Computational Biology

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Second generation sequencing allows for mtDNA mixture deconvolution and high resolution detection of heteroplasmy

(2011) Mitchell M. Holland et al.   CROATIAN MEDICAL JOURNAL

Mitochondrial DNA and disease

(2011) Laura C Greaves et al.   JOURNAL OF PATHOLOGY

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

(2010) Mingkun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system

(2010) Sha Tang et al.   BIOTECHNIQUES

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

(2010) Anita Kloss-Brandstätter et al.   HUMAN MUTATION

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

(2008) Anne Hartmann et al.   HUMAN MUTATION

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION