The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

202097 citationsJournal Articlehybrid Open Access

Authors

Miriam S. Reuter · Hospital for Sick Children

Rajiv Chaturvedi · Hospital for Sick Children

Eriskay Liston · Hospital for Sick Children

Roozbeh Manshaei · Hospital for Sick Children

Ritu B. Aul · Hospital for Sick Children

Sarah Bowdin · Hospital for Sick Children

Iris Cohn

Abstract

This data set demonstrates the diagnostic and scientific value of genome sequencing in pediatric heart disease, anticipating its role as a first-tier diagnostic test. The genetic heterogeneity will necessitate large-scale genomic initiatives for delineating novel gene-disease associations.

Topics & Keywords

Congenital heart defects research RNA modifications and cancer Genomic variations and chromosomal abnormalities

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Genetics in Medicine

Volume 22, Issue 6, pp. 1015-1024

DOI: 10.1038/s41436-020-0757-x

Field-Weighted Citation Impact: 5.59