ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/079/SRR28285579/SRR28285579_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/078/SRR28285578/SRR28285578_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/076/SRR28285576/SRR28285576_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/075/SRR28285575/SRR28285575_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/075/SRR28285575/SRR28285575_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/077/SRR28285577/SRR28285577_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/080/SRR28285580/SRR28285580_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/078/SRR28285578/SRR28285578_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/080/SRR28285580/SRR28285580_2.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/079/SRR28285579/SRR28285579_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/076/SRR28285576/SRR28285576_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR282/077/SRR28285577/SRR28285577_2.fastq.gzprimary200OKGenomicsHong Kong Children's Hospitalhttps://www.ebi.ac.uk/ena/browser/view/PRJNA1086226We evaluated the genome causes of cardiac channelopathy and cardiomyopathy in children and adolescents with whole genome sequencing (WGS), which offers additional coverage at the promotor, intronic regions and the mitochondrial genome for identifying variants and thus supporting precision medicine. In a tertiary paediatric cardiology center, we recruited all patients diagnosed with cardiac channelopathy and cardiomyopathy between the ages of 0 and 18 years old, who have negative genetic findings with prior gene panel or exome-based testing, and collected peripheral blood samples for WGS. This dataset contains six patients with positive genetic findings that can explain their phenotypes, with more clinical information provided in our manuscript. Four intronic variants were identified, which were missed in previous whole exome sequencing.ENA[X]Cardiomyopathy in other diseases classified elsewhere, Disease, Channelopathy, Secondary Cardiomyopathies, Cardiomyopathy, Secondary Myocardial Diseases, Complete, PRIM CARDIOMYOPATHY NEC., Whole Genome, Primary Cardiomyopathies, Myocardial Diseases, Primary Myocardial Diseases, CARDIOMYOPATH IN OTH DIS, Myocardiopathies, Complete Genome Sequencing, Genome Sequencing, Secondary Cardiomyopathy, Myocardial, Primary, Cardiomyopathies, cardiomyopathy, Other primary cardiomyopathies (disorder), Sequencing, Other primary cardiomyopathies, Secondary, [X]Cardiomyopathy in other diseases classified elsewhere (disorder), Primary Cardiomyopathy, Secondary Myocardial, Complete Genome, Other primary cardiomyopathy NOS, Cardiomyopathy in other diseases classified elsewhere, Cardiomyopathy NOS (disorder), Cardiomyopathy (disorder), Secondary Myocardial Disease, Whole, Cardiomyopathy NOS, Diseases, Primary Myocardial Disease, Other primary cardiomyopathy NOS (disorder), NOS, Myocardial Disease, Myocardiopathy, CARDIOMYOPATHIES SECOND, Primary MyocardialfalseWhole Genome Sequencing in Paediatric Channelopathy and Cardiomyopathy2024-03-302024-03-30PRJNA1086226