mit-o-matic: A Comprehensive Computational Pipeline for Clinical Evaluation of Mitochondrial Variations from Next-Generation Sequencing Datasets

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

Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology

(2014) Neslihan Abaci et al.   CARDIOLOGY IN THE YOUNG

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

(2013) Yan Guo et al.   BIOINFORMATICS

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

(2013) William J Craigen et al.   BMC Medical Genetics

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

(2013) Hong Cui et al.   GENETICS IN MEDICINE

The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders

(2013) Shale Dames et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An update to MitoTool: Using a new scoring system for faster mtDNA haplogroup determination

(2013) Long Fan et al.   MITOCHONDRION

MitoLSDB: A Comprehensive Resource to Study Genotype to Phenotype Correlations in Human Mitochondrial DNA Variations

(2013) Shamnamole K et al.   PLoS One

Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease

(2012) Michael H. Yan et al.   FREE RADICAL BIOLOGY AND MEDICINE

Detection of ultra-rare mutations by next-generation sequencing

(2012) M. W. Schmitt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

ART: a next-generation sequencing read simulator

(2011) Weichun Huang et al.   BIOINFORMATICS

Neutral mitochondrial heteroplasmy and the influence of aging

(2011) Neal Sondheimer et al.   HUMAN MOLECULAR GENETICS

Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

(2011) Hiroki Goto et al.   GENOME BIOLOGY

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

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

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Mitochondrial protein import: from proteomics to functional mechanisms

(2010) Oliver Schmidt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Expression and Maintenance of Mitochondrial DNA

(2008) Gerald S. Shadel   AMERICAN JOURNAL OF PATHOLOGY

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Mitochondrial nuclear receptors and transcription factors: Who's minding the cell?

(2007) Junghee Lee et al.   JOURNAL OF NEUROSCIENCE RESEARCH