Navigating the non-coding genome in heart development and Congenital Heart Disease

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1 Citation (Scopus)


Congenital Heart Disease (CHD)is characterised by a wide range of cardiac defects, from mild to life-threatening, which occur in babies worldwide. To date, there is no cure to CHD, however, progress in surgery has reduced its mortality allowing children affected by CHD to reach adulthood. In an effort to understand its genetic basis, several studies involving whole-genome sequencing (WGS)of patients with CHD have been undertaken and generated a great wealth of information. The majority of putative causative mutations identified in WGS studies fall into the non-coding part of the genome. Unfortunately, due to the lack of understanding of the function of these non-coding mutations, it is challenging to establish a causal link between the non-coding mutation and the disease. Thus, here we review the state-of-the-art approaches to interpret non-coding mutations in the context of CHD and address the following questions: What are the non-coding sequences important for cardiac function? Which technologies are used to identify them? Which resources are available to analyse them? What mutations are expected in these non-coding sequences? Learning from developmental process, what is their expected role in CHD?

Original languageEnglish
Pages (from-to)11-23
Number of pages13
Publication statusPublished - 1 May 2019


  • Congenital heart disease
  • Epigenome
  • Heart development
  • High-throughput sequencing
  • Non-coding genome
  • Regulatory elements

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