Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Comprehensive molecular characterization of mitochondrial genomes in human cancers

(2020) Yuan Yuan et al.   NATURE GENETICS

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

(2019) Örjan Persson et al.   Nature Communications

Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders

(2019) Brooke E Hjelm et al.   NUCLEIC ACIDS RESEARCH

Replication fork rescue in mammalian mitochondria

(2019) Rubén Torregrosa-Muñumer et al.   Scientific Reports

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

(2019) Daehwan Kim et al.   NATURE BIOTECHNOLOGY

Simulating Illumina Metagenomic Data with InSilicoSeq

(2018) Hadrien Gourlé et al.   BIOINFORMATICS

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria

(2018) Stanka Matic et al.   Nature Communications

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

(2018) David Goudenège et al.   GENETICS IN MEDICINE

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells

(2017) Filippo Zambelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Single-Molecule Analysis of mtDNA Replication Uncovers the Basis of the Common Deletion

(2017) Aaron F. Phillips et al.   MOLECULAR CELL

MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication

(2016) Jay P. Uhler et al.   NUCLEIC ACIDS RESEARCH

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging

(2015) Olivier R. Baris et al.   Cell Metabolism

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication

(2015) Bertil Macao et al.   Nature Communications

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

(2014) Thomas J. Nicholls et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

Primates and mouse NumtS in the UCSC Genome Browser

(2012) Francesco Maria Calabrese et al.   BMC BIOINFORMATICS

Adaptive seeds tame genomic sequence comparison

(2011) S. M. Kielbasa et al.   GENOME RESEARCH

The mtDNA Mutation Spectrum of the Progeroid Polg Mutator Mouse Includes Abundant Control Region Multimers

(2010) Siôn L. Williams et al.   Cell Metabolism

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy

(2010) J. Poulton et al.   CLINICAL GENETICS

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

(2008) Steffi Goffart et al.   HUMAN MOLECULAR GENETICS