SG-ADVISER mtDNA specifications

Unique identifier:
OMICS_20443
Restrictions to use:
None
Input format:
SAM/BAM
Output format:
HTML, TSV, VCF
Computer skills:
Basic
Maintained:
Yes
Interface:
Web user interface
Input data:
Mitochondrial DNA reads.
Output data:
Information about the parameters used, all the annotations for each variant the predicted haplogroup for each sample all the variants and a browsable table consisting of the most relavant fields relative to the variant annotation: the full name of each sample, the location on the mitocohnodrial chromosome, position in the mitocondrial chromosome + the alternative allele format, the reference and alternative alleles, the amino acid change, Genoytpe, the number of times this position is covered by reads and the heteroplasmic fraction.
License:
GNU General Public License version 3.0
Stability:
Stable

SG-ADVISER mtDNA support

Maintainers

  • Ali Torkamani <>
  • Manuel Rueda <>

Additional information

https://genomics.scripps.edu/mtdna/help.html

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Publications

Institution(s)

The Scripps Translational Science Institute, Scripps Health, and The Scripps Research Institute, La Jolla, CA, USA

Funding source(s)

Supported by NIH grants U54GM114833, U01 HG006476 and 5UL1 RR025774.

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