Genomic technologies are redefining the understanding of geno-type–phenotype relationships and over the past decade, manybioinformatics algorithms have been developed to predict func-tional consequences of single nucleotide variants. This articlepresents the data from a comprehensive computational workflowadopted to assess the biomedical impact of the DNA variantsresulting from the experimental study“Molecular analysis of sar-comeric and non-sarcomeric genes in patients with hypertrophiccardiomyopathy”(Bottillo et al., 2016)[1]. Several different inde-pendently methods were employed to predict the functionalconsequences of alleles that result in amino acid substitutions, tostudy the effect of some DNA variants over the splicing process and o investigate the impact of a sequence variant with respect to theevolutionary conservation.
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy / Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola. - In: DATA IN BRIEF. - ISSN 2352-3409. - 7:(2016), pp. 607-613. [10.1016/j.dib.2016.03.004]
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy
BOTTILLO, IRENE
Primo
;D'ANGELANTONIO, DANIELA;CAPUTO, VIVIANA;PAIARDINI, ALESSANDRO;LIPARI, MARTINA;MAJORE, SILVIA;CASTORI, MARCO;GRAMMATICO, Paola
2016
Abstract
Genomic technologies are redefining the understanding of geno-type–phenotype relationships and over the past decade, manybioinformatics algorithms have been developed to predict func-tional consequences of single nucleotide variants. This articlepresents the data from a comprehensive computational workflowadopted to assess the biomedical impact of the DNA variantsresulting from the experimental study“Molecular analysis of sar-comeric and non-sarcomeric genes in patients with hypertrophiccardiomyopathy”(Bottillo et al., 2016)[1]. Several different inde-pendently methods were employed to predict the functionalconsequences of alleles that result in amino acid substitutions, tostudy the effect of some DNA variants over the splicing process and o investigate the impact of a sequence variant with respect to theevolutionary conservation.File | Dimensione | Formato | |
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