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Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy
- 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.
- Subjects :
- 0301 basic medicine
Genetics
Multidisciplinary
Hypertrophic cardiomyopathy
Dna variants
Biology
medicine.disease
lcsh:Computer applications to medicine. Medical informatics
Conserved sequence
3304
03 medical and health sciences
030104 developmental biology
RNA splicing
medicine
lcsh:R858-859.7
In patient
Allele
lcsh:Science (General)
Gene
Data Article
Sequence (medicine)
lcsh:Q1-390
Subjects
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