Mutadelic: mutation analysis using description logic inferencing capabilities
نویسندگان
چکیده
منابع مشابه
Mutadelic: mutation analysis using description logic inferencing capabilities
MOTIVATION As next generation sequencing gains a foothold in clinical genetics, there is a need for annotation tools to characterize increasing amounts of patient variant data for identifying clinically relevant mutations. While existing informatics tools provide efficient bulk variant annotations, they often generate excess information that may limit their scalability. RESULTS We propose an ...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2015
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btv467