The ability of human nuclear DNA to cause false positive low-abundance heteroplasmy calls varies across the mitochondrial genome

Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms

(2016) Jun Yu et al.   GUT

Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie

(2014) Eleni Giannoulatou et al.   BMC BIOINFORMATICS

High-throughput sequencing in mitochondrial DNA research

(2014) Fei Ye et al.   MITOCHONDRION

Phylogenetic Properties of 50 Nuclear Loci in Medicago (Leguminosae) Generated Using Multiplexed Sequence Capture and Next-Generation Sequencing

(2014) Filipe de Sousa et al.   PLoS One

Identification of the remains of King Richard III

(2014) Turi E. King et al.   Nature Communications

MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis

(2013) Yan Guo et al.   BIOINFORMATICS

Benchmarking short sequence mapping tools

(2013) Ayat Hatem et al.   BMC BIOINFORMATICS

Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases

(2013) Renkui Bai et al.   MITOCHONDRION

Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

(2013) Amanda Ramos et al.   PLoS One

Finding the lost treasures in exome sequencing data

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

Primates and mouse NumtS in the UCSC Genome Browser

(2012) Francesco Maria Calabrese et al.   BMC BIOINFORMATICS

Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs

(2012) Mingkun Li et al.   NUCLEIC ACIDS RESEARCH

Mammalian NUMT insertion is non-random

(2012) Junko Tsuji et al.   NUCLEIC ACIDS RESEARCH

Comparative analysis of algorithms for next-generation sequencing read alignment

(2011) M. Ruffalo et al.   BIOINFORMATICS

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

(2011) Domenico Simone et al.   BMC GENOMICS

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences

(2011) Anna Schönberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies

(2011) Amanda Ramos et al.   MITOCHONDRION

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

(2011) Hiroki Goto 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

A survey of sequence alignment algorithms for next-generation sequencing

(2010) H. Li et al.   BRIEFINGS IN BIOINFORMATICS

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

The European Nucleotide Archive

(2010) R. Leinonen et al.   NUCLEIC ACIDS RESEARCH

The Sequence Read Archive

(2010) R. Leinonen et al.   NUCLEIC ACIDS RESEARCH

The RHNumtS compilation: Features and bioinformatics approaches to locate and quantify Human NumtS

(2009) Daniela Lascaro et al.   BMC GENOMICS

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling

(2009) Steven F. Dobrowolski et al.   HUMAN MUTATION

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