ISOWN
ISOWN is a software tool to discriminate somatic single nucleotide mutations from germline polymorphism in next-generation sequencing datasets. The ISOWN algorithm uses a machine learning approach and does not require control samples of normal tissue.
Topic
Genomics;Oncology;DNA polymorphism
Detail
Operation: Genetic variation analysis
Software interface: Command-line user interface
Language: Java, Perl
License: Apache License v 2.0
Cost: Free
Version name: -
Credit: The Ontario Institute for Cancer Research, the Ontario Ministry of Research, Innovation and Science.
Input: VCF
Output: -
Contact: Irina Kalatskaya ikalats@gmail.com
Collection: -
Maturity: -
Publications
- ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.
- Kalatskaya I, Trinh QM, Spears M, McPherson JD, Bartlett JMS, Stein L. ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. Genome Med. 2017 Jun 29;9(1):59. doi: 10.1186/s13073-017-0446-9. PMID: 28659176; PMCID: PMC5490163.
- https://doi.org/10.1186/s13073-017-0446-9
- PMID: 28659176
- PMC: PMC5490163
Download and documentation
Documentation: https://github.com/ikalatskaya/ISOWN/blob/master/README.md
Home page: https://github.com/ikalatskaya/ISOWN
Data: https://github.com/ikalatskaya/ISOWN/tree/master/training_data
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