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>Efficient and Accurate Pipeline for Diagnosis of Hypertrophic Cardiomyopathy by Next-Generation Semiconductor Sequencing
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Efficient and Accurate Pipeline for Diagnosis of Hypertrophic Cardiomyopathy by Next-Generation Semiconductor Sequencing
Hypertrophic cardiomyopathy (HC) is a primary cardiac disease characterized by hypertrophy of the left ventricle (LV ) without dilation , usually asymmetrical and predominantly septal , in the absence of any other cardiac or systemic disease that can cause myocardial hypertrophy . Typically, CH is caused by mutations in genes encoding sarcomeric elements. Currently 19 genes have been discovered and linked to the CH spectrum, besides the filaments of the sarcomere, additional subgroups can be classified as related CH, as Z disc genes and calcium transport. Diagnosis is mainly clinical and usually only identified after the symptoms beginning. For that reason molecular genetic tests came up as a differential tool for the discovery of the mutations causing the phenotype. This study developed a bioinformatics pipeline for accurate molecular diagnosis of CH using Ion PGM data.
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