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Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

Authors :
Federica Re
Carmelilia De Bernardo
Viviana Caputo
Irene Bottillo
Martina Lipari
Marco Castori
Paola Grammatico
Daniela D'Angelantonio
Alessandro Paiardini
Elisabetta Zachara
Silvia Majore
Source :
Data in Brief, Vol 7, Iss, Pp 607-613 (2016), Data in Brief
Publisher :
The Authors. Published by Elsevier Inc.

Abstract

Genomic technologies are redefining the understanding of genotype–phenotype relationships and over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants. This article presents the data from a comprehensive computational workflow adopted to assess the biomedical impact of the DNA variants resulting from the experimental study “Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy” (Bottillo et al., 2016) [1]. Several different independently methods were employed to predict the functional consequences of alleles that result in amino acid substitutions, to study the effect of some DNA variants over the splicing process and to investigate the impact of a sequence variant with respect to the evolutionary conservation.

Details

Language :
English
ISSN :
23523409
Database :
OpenAIRE
Journal :
Data in Brief
Accession number :
edsair.doi.dedup.....f63cd8eb425c54d918b6402e725cf915
Full Text :
https://doi.org/10.1016/j.dib.2016.03.004