Article

Long-read genome sequencing increases genomic yield in congenital heart disease

2025-05-16

Abstract excerpt

<h4>ABSTRACT</h4> Congenital heart disease (CHD) is the most common birth defect. We performed Illumina short-read genome sequencing (GS) of 1,101 probands, which identified a genetic cause in 16% of cases. We performed PacBio long-read GS in 43 genotype-elusive patients. Paired analysis revealed higher detection with long-read GS of single nucleotide variants, deletions, duplications, and insertions as well as fe...

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Literature Corpus work: 64f7250c-e5ff-5d7f-b7fd-dc5c10325dba
DOI: 10.1101/2025.05.14.25327523

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