MitoSAlt

MitoSAlt is a pipeline to identify large deletions and duplications in human and mouse mitochondrial genomes from next generation whole genome/exome sequencing data. The pipeline is capable of analyzing any circular genome in principle, as long as a proper configuration file is provided.

Features

Clinical Sequencing
Mitochondrial disease
Molecular signature

Project Samples

Project Activity

See All Activity >

License

GNU General Public License version 3.0 (GPLv3)

Follow MitoSAlt

MitoSAlt Web Site

Other Useful Business Software

$300 Free Credits to Build on Google Cloud

New customers can spin up VMs, build with AI, and query data at no cost.

Put your $300 in credit toward real workloads, then keep building with free monthly usage for 20+ products. No commitment and no charge until you upgrade.

Start Free

Rate This Project

User Ratings

4.0 out of 5 stars

★★★★★

★★★★

★★★

★★

★

ease 1 of 5 2 of 5 3 of 5 4 of 5 5 of 5 4 / 5

features 1 of 5 2 of 5 3 of 5 4 of 5 5 of 5 4 / 5

design 1 of 5 2 of 5 3 of 5 4 of 5 5 of 5 4 / 5

support 1 of 5 2 of 5 3 of 5 4 of 5 5 of 5 4 / 5

User Reviews

Filter Reviews:

All

claudia23 Posted 2021-04-22

Thanks for developing this pipeline! Really useful for the mitochondrial community. Cheers, Claudia

Reply from MitoSAlt

Posted 2021-10-05

Thank you Claudia, we hope that the pipeline helps answer several important questions pertaining to Mitochondrial genomics.

Additional Project Details

Operating Systems

Linux

Intended Audience

Science/Research

User Interface

Command-line

Programming Language

Perl, R, Unix Shell

Related Categories

Unix Shell Bio-Informatics Software, Perl Bio-Informatics Software, R Bio-Informatics Software

Registered

2020-11-18

Similar Business Software

Illumina DRAGEN Secondary Analysis

The Illumina DRAGEN Secondary Analysis provides accurate, comprehensive, and efficient analysis of next-generation sequencing data. Graph reference genome and machine learning driving unprecedented accuracy. Provides ultra-efficient workflow; can fully process a 34x whole human genome in ~30...

See Software
OmnibusX

In the world of biological data science, navigating vast and complex datasets can be a daunting task. Our software toolkit is designed to empower you by accelerating analysis, promoting accessibility, and providing comprehensive visualization tools to help you make sense of these intricate...

See Software
Genome Analysis Toolkit (GATK)

Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. The GATK...

See Software
Partek Flow

Partek bioinformatics software delivers powerful statistical and visualization tools in an easy-to-use interface. Researchers of all skill levels are empowered to explore genomic data quicker and easier than ever before. We turn data into discovery®. Pre-installed workflows and pipelines in our...

See Software
Illumina Connected Analytics

Store, archive, manage, and collaborate on multi-omic datasets. Illumina Connected Analytics is a secure genomic data platform to operationalize informatics and drive scientific insights. Easily import, build, and edit workflows with tools like CWL and Nextflow. Leverage DRAGEN bioinformatics...

See Software
GenomeBrowse

This free tool delivers stunning visualizations of your genomic data that give you the power to see what is occurring at each base pair in your samples. GenomeBrowse runs as a native desktop application on your computer. No longer do you have to sacrifice speed and interface quality to obtain a...

See Software