Exome, genome sequencing matched microarray for copy number variant detection
More than 9,000 clinical cases went through both chromosomal microarray and exome or genome sequencing at a high-throughput clinical laboratory, and the sequencing matched or beat microarray performance for spotting copy number variants, a 2026 study found. Concordance between the two platforms topped 99 percent. Reviewers checked the cases where results diverged; microarray findings missed by sequencing were typically copy number variants, accounting for 41 percent of those discordant cases. Sequencing also picked up additional variant types, including small and large structural variants.
Clinicians could use exome or genome sequencing as a first-line test, simplifying workflows and catching more structural variants.
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