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mtDB specifications


Unique identifier OMICS_01642
Name mtDB
Alternative name Human Mitochondrial Genome Database
Restrictions to use None
Maintained Yes

Publication for Human Mitochondrial Genome Database

mtDB citations


Ancient Human Migrations to and through Jammu Kashmir India were not of Males Exclusively

Sci Rep
PMCID: 5770440
PMID: 29339819
DOI: 10.1038/s41598-017-18893-8

[…] . ). Fst values were used to generate Multi Dimensional Scaling (MDS plot) using SPSS statistics software v.20. Complete mtDNA sequences for various population groups were downloaded from ( and aligned using DNasp v.5. The Fst values and statistical significance was estimated by permutation analysis, using 10,000 permutations by Arlequin software v.3.5. […]


Mitochondrial DNA depletion, mitochondrial mutations and high TFAM expression in hepatocellular carcinoma

PMCID: 5663603
PMID: 29137431
DOI: 10.18632/oncotarget.21033
call_split See protocol

[…] nt was purified and subsequently analyzed by Sanger sequencing. Sequencing results were compared with the updated Cambridge Reference Sequence (GenBank accession number: NC_012920) [], along with the Human Mitochondrial Genome Database (mtDB) and the Mitomap database []. Twenty-two somatic nonsynonymous variants in the protein-coding region, with a frequency <0.5% in […]


Resequencing and comparison of whole mitochondrial genome to gain insight into the evolutionary status of the Shennongjia golden snub‐nosed monkey (SNJ R. roxellana)

Ecol Evol
PMCID: 5478077
PMID: 28649355
DOI: 10.1002/ece3.3011
call_split See protocol

[…] s low‐quality read.), and used the high‐quality clear data, and used –K, –R, –F, and –u as the program parameters in the SOAP to finish assembly. Each read that was identified as mtDNA was aligned to mtDB. These alignments were then merged, and each alignment column was examined to determine the majority base, yielding large‐assembled contigs or scaffolds of mtDNA. To evaluate accuracy and complet […]


A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Orphanet J Rare Dis
PMCID: 5073853
PMID: 27769300
DOI: 10.1186/s13023-016-0526-8

[…] mtDB (0.07 %). This variant is predicted to be benign by mutation prediction programs including SIFT and PolyPhen. The m.16207A > G (D-Loop) sequence variation is mentioned in MITOMAP’s (0.27 %) and mtDB (0.21 %). The m.16318A > C (DLoop) sequence variation is mentioned in MITOMAP’s (0.04 %) and mtDB (0.11 %). Both variants are located in the non-coding region of the mtDNA. […]


The mitochondrial genetic landscape in neuroblastoma from tumor initiation to relapse

PMCID: 4872737
PMID: 26735174
DOI: 10.18632/oncotarget.6776
call_split See protocol

[…] t 2% was chosen as a threshold for tumor-specific variants and germline variants and at least 1% for investigating changes of variants. Resulting variants were compared and evaluated using MITOMAP: A Human Mitochondrial Genome Database. ( and mtDB: Human Mitochondrial Genome Database ( […]


Association of Genes, Pathways, and Haplogroups of the Mitochondrial Genome with the Risk of Colorectal Cancer: The Multiethnic Cohort

PLoS One
PMCID: 4560485
PMID: 26340450
DOI: 10.1371/journal.pone.0136796

[…] ogy at the Medical University Innsbruck and the Department of Database and Information Systems—Institute of Computer Science at the University of Innsbruck. MITOMAP: A Human Mitochondrial Genome Database., 2008.Phylotree (Build 16) van Oven M, Kayser M. 2009. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. […]


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mtDB institution(s)
Centre for Integrative Genomics, University of Lausanne, Switzerland; Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala Uppsala, Sweden

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