Mutadelic: mutation analysis using description logic inferencing capabilities
Author(s) -
Matthew Holford,
Michael Krauthammer
Publication year - 2015
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btv467
Subject(s) - workflow , computer science , annotation , scalability , informatics , data science , artificial intelligence , database , electrical engineering , engineering
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.
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