Mutadelic: mutation analysis using description logic inferencing capabilities

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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