A tool for mitochondrial analysis for HiFi sequencing data
Mitorsaw identifies and quantifies mitochondrial variants from PacBio HiFi datasets. Key features include:
- Identification of homoplasmic and heteroplasmic variants for the full length of the mitochondria
- Detection and removal of NUMT reads from variant calling steps
- Generates a phylogenetic tree-like structure to estimate heteroplasmic variant inheritance and haplotype abundances, creating consensus sequences for each haplotype
- Generates customized IGV visuals for reviewing results
Authors: Matt Holt
There is currently no pre-print or paper associated with Mitorsaw.
If you notice any missing features, bugs, or need assistance with analyzing the output of Mitorsaw, please don't hesitate to open a GitHub issue.
Mitorsaw is a pre-release software intended for research use only and not for use in diagnostic procedures. While efforts have been made to ensure that Mitorsaw lives up to the quality that PacBio strives for, we make no warranty regarding this software.
As Mitorsaw is not covered by any service level agreement or the like, please do not contact a PacBio Field Applications Scientists or PacBio Customer Service for assistance with any Mitorsaw release. Please report all issues through GitHub instead. We make no warranty that any such issue will be addressed, to any extent or within any time frame.
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