MirTrios

Application data
Biological application domain(s)	Genomics, Sequence analysis, de novo mutation detection
Principal bioinformatics method(s)	Mapping and variant calling, de novo mutation detection
Technology	Any sequencing platform
Maintained?	Maybe

Summary: The rapid advances of Next-generation sequencing (NGS) technologies have greatly facilitated clinical genetic diagnosis of sporadic disease genome-widely. However, the vast amount of mutations generated by NGS poses multiple challenges for identification of functional mutations and candidate genes. We devolopped a web server named mirTrios to accurately detect de novo mutations (DNMs) based on Expectation-maximization (EM) model. In addition, to facilitate the interpretation of diverse mutations, mirTrios also surports identification of rare inherited mutations, known diagnostic variants, as well as the prioritization of novel and promising candidate genes. 200px|right

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Links

• MirTrios Homepage [ edit link ]

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References

1. . 2015. Journal of Medical Genetics

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