Deep-Coverage MPS Analysis of Heteroplasmic Variants within the mtGenome Allows for Frequent Differentiation of Maternal Relatives

Assessing heteroplasmic variant drift in the mtDNA control region of human hairs using an MPS approach

(2018) Jamie M. Gallimore et al.   Forensic Science International-Genetics

Massive parallel sequencing of mitochondrial DNA genomes from mother-child pairs using the ion torrent personal genome machine (PGM)

(2018) Ke Ma et al.   Forensic Science International-Genetics

Evaluation of GeneMarker ® HTS for improved alignment of mtDNA MPS data, haplotype determination, and heteroplasmy assessment

(2017) Mitchell M. Holland et al.   Forensic Science International-Genetics

A study of the peopling of Greenland using next generation sequencing of complete mitochondrial genomes

(2016) Maria Lopopolo et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

Mitochondrial Function, Biology, and Role in Disease

(2016) Elizabeth Murphy et al.   CIRCULATION RESEARCH

Segregation of Naturally Occurring Mitochondrial DNA Variants in a Mini-Pig Model

(2016) G. Cagnone et al.   GENETICS

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

(2016) Mingkun Li et al.   GENOME RESEARCH

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

(2016) Ian J. Wilson et al.   HUMAN MOLECULAR GENETICS

Transmission from centenarians to their offspring of mtDNA heteroplasmy revealed by ultra-deep sequencing

(2016) Cristina Giuliani et al.   Aging-US

Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing

(2015) Rebecca S. Just et al.   Forensic Science International-Genetics

Helena, the hidden beauty: Resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample

(2015) Martin Bodner et al.   Forensic Science International-Genetics

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

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

Insight into biases and sequencing errors for amplicon sequencing with the Illumina MiSeq platform

(2015) Melanie Schirmer et al.   NUCLEIC ACIDS RESEARCH

NGS-eval: NGS Error analysis and novel sequence VAriant detection tooL

(2015) Ali May et al.   NUCLEIC ACIDS RESEARCH

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations

(2015) Mingkun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

(2014) W. Parson et al.   Forensic Science International-Genetics

Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq

(2014) Jennifer A. McElhoe et al.   Forensic Science International-Genetics

A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck

(2014) Francesco Pallotti et al.   PLoS One

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA

(2014) B. Rebolledo-Jaramillo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Highly Unstable Recent Mutation in Human mtDNA

(2013) Ana T. Duggan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A mitochondrial bioenergetic etiology of disease

(2013) Douglas C. Wallace   JOURNAL OF CLINICAL INVESTIGATION

The role of mitochondria in aging

(2013) Ana Bratic et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2013) Long Fan et al.   MITOCHONDRION

Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease

(2013) D. C. Wallace et al.   Cold Spring Harbor Perspectives in Biology

Characterizing and measuring bias in sequence data

(2013) Michael G Ross et al.   GENOME BIOLOGY

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

A new approach for detecting low-level mutations in next-generation sequence data

(2012) Mingkun Li et al.   GENOME BIOLOGY

Identification and correction of systematic error in high-throughput sequence data

(2011) Frazer Meacham et al.   BMC BIOINFORMATICS

Sequence-specific error profile of Illumina sequencers

(2011) Kensuke Nakamura et al.   NUCLEIC ACIDS RESEARCH

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

(2011) Martin Kircher et al.   NUCLEIC ACIDS RESEARCH

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

(2011) Hiroki Goto et al.   GENOME BIOLOGY

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

(2011) André E Minoche 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

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

(2010) Aurelia Santoro et al.   PLoS One

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples

(2009) Jodi A. Irwin et al.   JOURNAL OF MOLECULAR EVOLUTION

The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift

(2008) Passorn Wonnapinij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

(2008) J. C. Dohm et al.   NUCLEIC ACIDS RESEARCH