FORGE

FORGe (Favorable Omega-Representation Genome) is a software tool to enhance the reference genome by incorporating genetic variants and creating a graph genome with alternative sequences. This approach aims to improve read alignment accuracy and minimize allelic bias.

The tool addresses the challenges associated with adding variants to the reference genome, such as increased ambiguity and computational costs related to storing and querying the genome index. FORGe introduces methods to model and prioritize variants based on their impact on alignment accuracy and computational overhead.

By employing FORGe, users can achieve a balance between accuracy and computational efficiency, enabling them to make informed decisions when augmenting the reference genome with genetic variants.

Topic

Exome sequencing;Mapping;Genetic variation

Detail

  • Operation: Genome indexing;Variant prioritisation;Variant calling

  • Software interface: Command-line interface

  • Language: Python

  • License: The MIT License

  • Cost: Free with restrictions

  • Version name: -

  • Credit: National Science Foundation, National Institutes of Health/National Institute of General Medical Sciences.

  • Input: -

  • Output: -

  • Contact: Ben Langmead langmea@cs.jhu.edu

  • Collection: -

  • Maturity: Mature

Publications

  • FORGE: A tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions
  • Kaushik A, et al. miRMOD: a tool for identification and analysis of 5' and 3' miRNA modifications in Next Generation Sequencing small RNA data. miRMOD: a tool for identification and analysis of 5' and 3' miRNA modifications in Next Generation Sequencing small RNA data. 2015; 3:e1332. doi: 10.7717/peerj.1332
  • https://doi.org/10.12688/f1000research.6032.1
  • PMID: -
  • PMC: -

Download and documentation


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