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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Vydané v:	Briefings in bioinformatics Ročník 16; číslo 5; s. 769 - 779
Hlavní autori:	Mueller, Sabine C., Backes, Christina, Haas, Jan, Katus, Hugo A., Meder, Benjamin, Meese, Eckart, Keller, Andreas
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England Oxford Publishing Limited (England) 01.09.2015
Predmet:	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
On-line prístup:	Získať plný text
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