FOCUS REVIEWS ON MOLECULAR CARDIOLOGY : Genetic Variation in Cardiomyopathy and Cardiovascular Disorders
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- McNally Elizabeth M.
- Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
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- Puckelwartz Megan J.
- Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
書誌事項
- タイトル別名
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- Genetic Variation in Cardiomyopathy and Cardiovascular Disorders
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With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies. (Circ J 2015; 79: 1409–1415)
収録刊行物
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- Circulation Journal
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Circulation Journal 79 (7), 1409-1415, 2015
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詳細情報 詳細情報について
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- CRID
- 1390282680083934080
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- NII論文ID
- 130005083953
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- NII書誌ID
- AA11591968
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- ISSN
- 13474820
- 13469843
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- NDL書誌ID
- 026523360
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- PubMed
- 26040335
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- 使用不可