Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy

Non-synonymous single nucleotide variants (nsSNVs) in coding DNA regions can result in phenotypic differences between individuals; however, only some nsSNVs are causative for a certain disease. As just a fraction of respective nsSNVs is annotated in databases, computational biology tools are applied...

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Bibliographic Details
Published in:	Briefings in bioinformatics Vol. 16; no. 5; pp. 769 - 779
Main Authors:	Mueller, Sabine C., Backes, Christina, Haas, Jan, Katus, Hugo A., Meder, Benjamin, Meese, Eckart, Keller, Andreas
Format:	Journal Article
Language:	English
Published:	England Oxford Publishing Limited (England) 01.09.2015
Subjects:	Algorithms Cardiomyopathy Cardiomyopathy, Dilated - genetics Computer programs Constraining Deoxyribonucleic acid Disease control DNA Genotype & phenotype Heterogeneity Humans Mutation Nucleotides Panels Pathogenesis Pathogens Patients Polymorphism Polymorphism, Single Nucleotide performance quality pathogenicity prediction nsSNVs DCM concordance
ISSN:	1467-5463, 1477-4054, 1477-4054
Online Access:	Get full text
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