Germline selection shapes human mitochondrial DNA diversity

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

(2018) Vasileios I. Floros et al.   NATURE CELL BIOLOGY

Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

(2018) Wei Wei et al.   PLoS Genetics

Estimation of diffusive states from single-particle trajectory in heterogeneous medium using machine-learning methods

(2018) Yu Matsuda et al.   PHYSICAL CHEMISTRY CHEMICAL PHYSICS

Model-free Estimation of Recent Genetic Relatedness

(2016) Matthew P. Conomos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes

(2016) Mitsutoshi Yamada et al.   Cell Stem Cell

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

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

(2016) Eunju Kang et al.   NATURE

Selfish drive can trump function when animal mitochondrial genomes compete

(2016) Hansong Ma et al.   NATURE GENETICS

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing

(2016) Hansi Weissensteiner et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial transcription termination factor 1 directs polar replication fork pausing

(2016) Yonghong Shi et al.   NUCLEIC ACIDS RESEARCH

Age-Related and Heteroplasmy-Related Variation in Human mtDNA Copy Number

(2016) Manja Wachsmuth et al.   PLoS Genetics

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

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

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Mitochondrial DNA Variation in Human Radiation and Disease

(2015) Douglas C. Wallace   CELL

Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother-Child Pairs

(2015) Bruno Cavadas et al.   HUMAN MUTATION

Metabolic rescue in pluripotent cells from patients with mtDNA disease

(2015) Hong Ma et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

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

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

(2014) Claudia Calabrese et al.   BIOINFORMATICS

In D-loop: 40years of mitochondrial 7S DNA

(2014) Thomas J. Nicholls et al.   EXPERIMENTAL GERONTOLOGY

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

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

(2014) Young Seok Ju et al.   eLife

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A high-performance computing toolset for relatedness and principal component analysis of SNP data

(2012) X. Zheng et al.   BIOINFORMATICS

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

Reliable detection of subclonal single-nucleotide variants in tumour cell populations

(2012) Moritz Gerstung et al.   Nature Communications

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock

(2009) Pedro Soares et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Modelling mitochondrial site polymorphisms to infer the number of segregating units and mutation rate

(2009) M. D. Hendy et al.   Biology Letters

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott 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