Anomalies detected with ultrasound in fetuses with normal karyotypes may be associated with unusual copy number variants (CNVs), a secondary analysis shows. Jennifer C. Donnelly, MD, from the ...
Chromosomal microarray analysis, a two-year-old gene-chip technology used to look for potential genetic abnormalities in children, has proved to be remarkably sensitive in detecting abnormalities in ...
Chromosomal microarray testing is a powerful tool for detecting genomic copy number aberrations. Combinatorial use of fluorescent dyes and oligonucleotide probes has enabled the detection of invisible ...
Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging from a cost perspective when verifying numerous exon ...