Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing

Mitochondrial base editor induces substantial nuclear off-target mutations

(2022) Zhixin Lei et al.   NATURE

CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA

(2022) Beverly Y. Mok et al.   NATURE BIOTECHNOLOGY

Reconstructing aspects of human embryogenesis with pluripotent stem cells

(2021) Berna Sozen et al.   Nature Communications

Generation of human blastocyst-like structures from pluripotent stem cells

(2021) Yong Fan et al.   Cell Discovery

The potential of mitochondrial genome engineering

(2021) Pedro Silva-Pinheiro et al.   NATURE REVIEWS GENETICS

Comprehensive molecular characterization of mitochondrial genomes in human cancers

(2020) Yuan Yuan et al.   NATURE GENETICS

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

(2020) Lisa G. Riley et al.   GENETICS IN MEDICINE

A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing

(2020) Beverly Y. Mok et al.   NATURE

Long-read human genome sequencing and its applications

(2020) Glennis A. Logsdon et al.   NATURE REVIEWS GENETICS

Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues

(2020) Barbara Arbeithuber et al.   PLOS BIOLOGY

Mitochondrial Diseases: A Diagnostic Revolution

(2020) Katherine R. Schon et al.   TRENDS IN GENETICS

Mechanisms of Mitochondrial DNA Deletion Formation

(2019) Nadee Nissanka et al.   TRENDS IN GENETICS

Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics

(2019) Leif S. Ludwig et al.   CELL

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations

(2019) Huanzheng Li et al.   Cells

Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees

(2019) Arslan A. Zaidi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations

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Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Mitochondrial DNA Transcription and Its Regulation: An Evolutionary Perspective

(2018) Gilad Barshad et al.   TRENDS IN GENETICS

Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations

(2018) Joerg P. Burgstaller et al.   Nature Communications

Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs

(2018) Yi Yang et al.   Protein & Cell

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

(2018) Mauro Santibanez-Koref et al.   MITOCHONDRION

Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation

(2017) Sergey Koren et al.   GENOME RESEARCH

Pervasive within-Mitochondrion Single-Nucleotide Variant Heteroplasmy as Revealed by Single-Mitochondrion Sequencing

(2017) Jacqueline Morris et al.   Cell Reports

Selective mitochondrial DNA degradation following double-strand breaks

(2017) Amandine Moretton et al.   PLoS One

Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair

(2016) Nicholas J. Haradhvala et al.   CELL

Complete sequence of human mitochondrial DNA obtained by combining multiple displacement amplification and next-generation sequencing on a single oocyte

(2016) Massimo Ancora et al.   Mitochondrial DNA Part A

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

(2015) Pradeep Reddy et al.   CELL

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

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

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

MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice

(2015) Ting Ni et al.   Scientific Reports

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2014) Sumit Parikh et al.   GENETICS IN MEDICINE

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

Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations

(2014) Yao-Cheng Lin et al.   Nature Communications

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

(2014) Laura C. Greaves et al.   PLoS Genetics

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

(2014) Young Seok Ju et al.   eLife

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

(2013) Maura Costello et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease

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

Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage

(2013) Scott R. Kennedy et al.   PLoS Genetics

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Human mitochondrial DNA: roles of inherited and somatic mutations

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

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

(2011) C. Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of Heteroplasmic Mitochondrial DNA in Single Mitochondria

(2010) Joseph E. Reiner et al.   PLoS One

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS