CNV-Sim
  

Closed Updated Feb 11, 2019

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CNV-Sim #6

  
Updated Feb 11, 2019
In genomics, Copy Number Variations (CNVs) are a type of structural variation in a genome where sections of the genome are duplicated or deleted. The number of variations (duplications/deletions) varies between individuals in the human population.

Copy Number Variation Simulator (CNV-Sim)

In genomics, Copy Number Variations (CNVs) are a type of structural variation in a genome where sections of the genome are duplicated or deleted. The number of variations (duplications/deletions) varies between individuals in the human population.

The Copy Number Variation Simulator (CNV-Sim) is a simulation tool that extends the functionality of existing next-generation sequencing read simulators to introduce copy number variations in the generated reads. The resulting reads encompass amplifications as well as deletions according to a predefined list of variant regions.

CNV-Sim aids testing and benchmarking tools for copy number variation detection and analysis. The tool offers two types of simulation:

CNV simulation in whole genome. CNV-Sim utilizes the functionality of ART to introduce variations in the genome. CNV simulation in targeted exome. CNV-Sim utilizes the functionality of Wessim to introduce variations in the targets.

GitHub: https://github.com/NabaviLab/CNV-Sim

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