MirTrios

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Application data

Created by Jinchen Li, Yi Jiang, et al.
Biological application domain(s) Genomics, Sequence analysis, de novo mutation detection
Principal bioinformatics method(s) Read mapping, Variant calling, de novo mutation detection
Technology Any sequencing platform
Created at Beijing Institutes of Life Science
Maintained? Yes
Input format(s) VCF
Output format(s) BED
Programming language(s) Perl, PHP, JavaScript
Operating system(s) Linux

Summary: mirTrios is a web server to accurately detect de novo mutations (DNMs) based on Expectation-maximization (EM) model. mirTrios also surports identification of rare inherited mutations, known diagnostic variants, as well as the prioritisation of novel and promising candidate genes. 200px|right

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Description

mirTrios provides an intuitive interface for the general geneticist and clinician, and can be widely used for detection of DNMs and rare inherited mutations, and annotation in sporadic diseases.






Links


References

  1. . 2015. Journal of Medical Genetics


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