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Article

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.

Journal of human genetics - 1 Sept 2024

Senthivel Vigneshwar, Jolly Bani, Vr Arvinden, Bajaj Anjali, Bhoyar Rahul, Imran Mohamed, Vignesh Harie, Divakar Mohit Kumar, Sharma Gautam, Rai Nitin, Kumar Kapil, Mp Jayakrishnan, Krishna Maniram, Shenthar Jeyaprakash, Ali Muzaffar, Abqari Shaad, Nadri Gulnaz, Scaria Vinod, Naik Nitish, Sivasubbu Sridhar

Abstract excerpt

Cardiac channelopathies are a group of heritable disorders that affect the heart's electrical activity due to genetic variations present in genes coding for ion channels. With the advent of new sequencing technologies, molecular diagnosis of these disorders in patients has paved the way for early identification, therapeutic management and family screening. The objective of this retrospective study was to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38890497
DOI: 10.1038/s10038-024-01265-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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