Rare copy number variation analysis identi es disease-related variants in atrioventricular septal defect patients

HIGHLIGHTS

• who: DYRK and colleagues from the Shanghai Institute of Nutrition and Health (CAS), China Istanbul University, Tu00fcrkiye have published the research work: Rare copy number variation analysis identi es disease-related variants in atrioventricular septal defect patients, in the Journal: (JOURNAL)
• how: The authors used WES technology and XHMM detection algorithms to analyze the AVSD and control cases and identified 4255 rare CNVs (MAF and amplt0.01) in cohort. The detailed clinical features were presented in Supplementary Table S1.
• future: The recurrent detection of these CNVs in CHD patients indicates the rare CNVs . . .
  

   

  

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