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MitoSeek specifications


Unique identifier OMICS_05467
Name MitoSeek
Software type Pipeline/Workflow
Interface Command line interface
Restrictions to use None
Input data MitoSeek can extract mitochondrial genome information directly from a BAM file and also perform mitochondrial genome assembly.
Operating system Unix/Linux
Computer skills Advanced
Version 1.3
Stability Stable
Maintained Yes


No version available



  • person_outline Yan Guo

Publication for MitoSeek

MitoSeek citations


Somatic Mitochondrial DNA Mutations in Diffuse Large B Cell Lymphoma

Sci Rep
PMCID: 5827201
PMID: 29483551
DOI: 10.1038/s41598-018-21844-6

[…] The MitoSeek tool was revised (Supplementary Methods) and used to extract mitochondrial DNA reads from WGS BAM files of 40 tumour-normal pairs, convert the mitochondrial genome coordinates from the hg18 r […]


Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms

Nucleic Acids Res
PMCID: 4889952
PMID: 27105841
DOI: 10.1093/nar/gkw309

[…] s for whom conventional molecular testing had previously failed to produce a diagnosis. Such evaluations of mtDNA based on off-target data can be facilitated by dedicated bioinformatics tools such as MitoSeek, which extracts mitochondrial genome information from exome data and analyses associated mutations and structural variants ().Based on the potency of this method for expanding knowledge beyon […]


The mitochondrial genetic landscape in neuroblastoma from tumor initiation to relapse

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

[…] Whole exome sequencing data was filtered for mitochondrial sequences and screened for mt variants using the MitoSeek tool [] and the revised Cambridge Reference Sequence. Thresholds were set to a coverage of > 50 reads per base. The mean coverage of mitochondrial variants was 212. An abundance of at least 2 […]


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MitoSeek institution(s)
Center for Quantitative Sciences, Vanderbilt University, Nashville, TN, USA; Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA

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