MirTrios
Application data |
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Created by | Jinchen Li, Yi Jiang, et al. |
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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.
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