Article

Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease

2026-07-20

Abstract excerpt

<title>Abstract</title> <p>Congenital heart disease (CHD) affects ~1% of live births, yet the genetic basis of many cases remains unresolved. Uniparental disomy (UPD), the inheritance of both homologous chromosomes from one parent, is often overlooked. We developed TrioMix-UPD, an integrated short- and long-read sequencing framework for UPD detection and classification. Applying it to 3,740 CHD trios, we identifi...

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Literature Corpus work: 0be52bad-c4f8-52fc-98a7-bdc240a32174
DOI: 10.21203/rs.3.rs-10233423/v1

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