Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions

(2016) Frances R. Belmonte et al.   Scientific Reports

Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data

(2015) Pan Zhang et al.   BRIEFINGS IN BIOINFORMATICS

Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA

(2015) Jana Naue et al.   MITOCHONDRION

Mitochondrial capture enriches mito-DNA 100 fold, enabling PCR-free mitogenomics biodiversity analysis

(2015) Shanlin Liu et al.   Molecular Ecology Resources

Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing

(2015) Eun Hyun Ahn et al.   PLoS One

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

Role of diffuse low-level heteroplasmy of mitochondrial DNA in Alzheimer’s disease neurodegeneration

(2015) Tiziana Casoli et al.   Frontiers in Aging Neuroscience

Mitochondrial function and mitochondrial DNA maintenance with advancing age

(2014) Azhub I. Gaziev et al.   BIOGERONTOLOGY

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

Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual

(2013) Kaarel Krjutškov et al.   CURRENT 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

Finding the lost treasures in exome sequencing data

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

BEAMing and Droplet Digital PCR Analysis of Mutant IDH1 mRNA in Glioma Patient Serum and Cerebrospinal Fluid Extracellular Vesicles

(2013) Walter W Chen et al.   Molecular Therapy-Nucleic Acids

Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

(2012) W. Zhang et al.   CLINICAL CHEMISTRY

The use of next generation sequencing technology to study the effect of radiation therapy on mitochondrial DNA mutation

(2012) Yan Guo et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Mitochondrial genomes gleaned from human whole-exome sequencing

(2012) Ernesto Picardi et al.   NATURE METHODS

Selective Enrichment and Sequencing of Whole Mitochondrial Genomes in the Presence of Nuclear Encoded Mitochondrial Pseudogenes (Numts)

(2012) Jonci N. Wolff et al.   PLoS One

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

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

(2012) C. Zong et al.   SCIENCE

Mitochondria and autophagy: Critical interplay between the two homeostats

(2011) Koji Okamoto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

(2011) Hongbo M Xie et al.   BMC BIOINFORMATICS

The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer

(2011) Tao Chen et al.   BMC Medical Genetics

Evaluation of circular DNA substrates for whole genome amplification prior to forensic analysis

(2011) Courtney M. Tate et al.   Forensic Science International-Genetics

Neutral mitochondrial heteroplasmy and the influence of aging

(2011) Neal Sondheimer et al.   HUMAN MOLECULAR GENETICS

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

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

(2011) Daniel Aird 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

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system

(2010) Sha Tang et al.   BIOTECHNIQUES

Agarose droplet microfluidics for highly parallel and efficient single molecule emulsion PCR

(2010) Xuefei Leng et al.   LAB ON A CHIP

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

(2010) Lyndsey Craven et al.   NATURE

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

Multiplexed DNA Sequence Capture of Mitochondrial Genomes Using PCR Products

(2010) Tomislav Maricic et al.   PLoS One

Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

(2010) R. J. Leary et al.   Science Translational Medicine

Sequence analysis for HV I region of mitochondrial DNA using WGA (Whole Genome Amplification) method

(2009) Akina Nara et al.   Legal Medicine

Isolation of mitochondria for biogenetical studies: An update

(2009) Erika Fernández-Vizarra et al.   MITOCHONDRION

Single-Molecule LATE-PCR Analysis of Human Mitochondrial Genomic Sequence Variations

(2009) Adam Osborne et al.   PLoS One

A critical comparison between two classical and a kit-based method for mitochondria isolation

(2009) Sonja Hartwig et al.   PROTEOMICS

Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes

(2009) A. W. Briggs et al.   SCIENCE

Next generation sequence analysis for mitochondrial disorders

(2009) Valeria Vasta et al.   Genome Medicine

Multiple strand displacement amplification of mitochondrial DNA from clinical samples

(2008) Samantha Maragh et al.   BMC Medical Genetics

Single molecule PCR in mtDNA mutational analysis: Genuine mutations vs. damage bypass-derived artifacts

(2008) Y. Kraytsberg et al.   METHODS

Isolation of mitochondria from rat brain using Percoll density gradient centrifugation

(2008) Neil R Sims et al.   Nature Protocols

Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device

(2008) Simant Dube et al.   PLoS One