Article

Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes

2026-03-02

Abstract excerpt

Predicting the functional significance of structural variants (SVs) associated with genetic diseases remains challenging. To test the hypothesis that SVs from people with congenital heart disease (CHD) disrupt developmental chromatin interactions, we developed CardioAkita, a machine-learning model that predicts how variants alter 3D chromatin structure. Analyzing previously genotyped de novo SVs ( dn SVs), we ob...

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Literature Corpus work: 73375f56-d060-5e93-bb61-cb60699de594
DOI: 10.64898/2026.02.28.708767

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