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Study Reveals 29 Pathogenic Variants in Congenital Heart Disease

7/27/2025

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Summary

Story summary

In a groundbreaking study on congenital heart disease (CHD), researchers examined 101 patients and uncovered 29 pathogenic variants using advanced whole exome sequencing and chromosomal microarray analysis. With a diagnostic yield of 28.7%, the findings revealed 21 pathogenic copy number variations and 12 aneuploidies, particularly highlighting the complexity in non-isolated CHD cases.

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Story summary

In a groundbreaking study on congenital heart disease (CHD), researchers examined 101 patients and uncovered 29 pathogenic variants using advanced whole exome sequencing and chromosomal microarray analysis. With a diagnostic yield of 28.7%, the findings revealed 21 pathogenic copy number variations and 12 aneuploidies, particularly highlighting the complexity in non-isolated CHD cases.