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Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

2026-07-10

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Brugada syndrome (BrS) is an inherited cardiac condition characterized by a hallmark ECG pattern and an increased risk of sudden cardiac death. Central to the aetiology of BrS, the SCN5A region harbours both common non-coding risk variants and rare coding variants that are causative in approximately 20% of patients. However, rare non-coding genetic variation in this region remains largely unexplored. Here, we use...

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Literature Corpus work: 3bb499bf-6a07-5b69-92dd-a22adc250ab7
DOI: 10.64898/2026.07.07.26356386

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Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndromeDOI 10.64898/2026.07.07.26356386Read

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Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the <i>SCN5A</i> locus in Brugada syndrome

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