Article

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

2023-12-28

Abstract excerpt

<h4>ABSTRACT</h4> Several studies have demonstrated the value of large-scale human exome and genome data analysis, to maximise gene discovery in rare diseases. Using this approach, we have analysed the exomes of 4,747 cases and 52,881 controls, to identify single genes and digenic interactions which confer a substantial risk of congenital heart disease (CHD). We identified both rare loss-of-function and missense c...

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Literature Corpus work: 2b657c8b-0489-5027-ad9b-c4dd82d66527
DOI: 10.1101/2023.12.23.23300495

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