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ReportOnline now100478Open access 1Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia 2University of New South Wales, Kensington, NSW 2033, Australia 3School of Chemistry and Molecular Biosciences, University of Queensland, St Lucia, QLD 4067, Australia 4Systems and Computational Biology, Bio21 Institute, University of Melbourne, Parkville, VIC 3025, Australia 5Heart Centre for Children, Sydney Children's Hospital Network, Westmead, NSW 2145, Australia 6Faculty of...
Abstract De novo mutations (DNMs) are genetic alterations that occur for the first time in an offspring. DNMs have been found to be a significant cause of severe developmental disorders. With the widespread use of next-generation sequencing (NGS) technologies, accurate detection of DNMs is crucial. Several bioinformatics tools have been developed to call DNMs from NGS data, but no study to date has systematically compared these tools.
Key Points Question Is high polygenic risk for spontaneous coronary artery dissection (SCAD) associated with inheritance within families with SCAD? Findings In this genetic association study including 13 families with SCAD, 173 individuals with sporadic SCAD, and 1127 controls, a polygenic risk score for SCAD was associated with significantly higher odds of disease in both familial and sporadic SCAD compared with healthy controls.
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