Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Mitochondrial genetics

(2013) P. F. Chinnery et al.   BRITISH MEDICAL BULLETIN

Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM)

(2013) Walther Parson et al.   Forensic Science International-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

Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data

(2013) Lauren M. Bragg et al.   PLoS Computational Biology

Universal heteroplasmy of human mitochondrial DNA

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

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine (UCN) mutation

(2012) Alexandra Götz et al.   PEDIATRIC RESEARCH

Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing

(2011) Jana Naue et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS