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New Research: Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice https://t.co/IQ3aJqssSw #FrontiersIn #Genetics
New Research: Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice https://t.co/IQ3aJqssSw #FrontiersIn #Genetics
The overall detection rate for pathogenic or likely pathogenic chromosomal abnormalities was 16.9%, including 7.6% aneuploidies and 9.3% pathogenic/likely pathogenic copy number variations (CNVs), predominantly 22q11.2 deletion syndrome (54.4%) https://t.c