Cardiovascular genetics: Technological advancements and applicability for dilated cardiomyopathy

G. J. M. Kummeling; A. F. Baas; M. Harakalova; J. J. van der Smagt; F. W. Asselbergs

doi:10.1007/s12471-015-0700-y

Cardiovascular genetics: Technological advancements and applicability for dilated cardiomyopathy

G. J. M. Kummeling
, A. F. Baas
, M. Harakalova
, J. J. van der Smagt
, F. W. Asselbergs^*

^*Corresponding author for this work

University Medical Center Utrecht
Royal Netherlands Academy of Arts and Sciences
University College London

Research output: Contribution to journal › Review article › Academic › peer-review

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Abstract

Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.

Original language	English
Pages (from-to)	356-362
Journal	Netherlands heart journal
Volume	23
Issue number	7-8
DOIs	https://doi.org/10.1007/s12471-015-0700-y
Publication status	Published - 1 Jul 2015
Externally published	Yes

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title = "Cardiovascular genetics: Technological advancements and applicability for dilated cardiomyopathy",

abstract = "Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.",

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T1 - Cardiovascular genetics

T2 - Technological advancements and applicability for dilated cardiomyopathy

AU - Kummeling, G. J. M.

AU - Baas, A. F.

AU - Harakalova, M.

AU - van der Smagt, J. J.

AU - Asselbergs, F. W.

PY - 2015/7/1

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N2 - Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.

AB - Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.

UR - https://www.scopus.com/pages/publications/84937418854

UR - https://www.ncbi.nlm.nih.gov/pubmed/26031632

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M3 - Review article

C2 - 26031632

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SP - 356

EP - 362

JO - Netherlands heart journal

JF - Netherlands heart journal

IS - 7-8

ER -

Cardiovascular genetics: Technological advancements and applicability for dilated cardiomyopathy

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