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High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.

Clinical genetics - 1 Mar 2026

Birnbaum Rivka, Slovik Maya, Zenvirt Shamir, Livyatan Ilana, Altman Israel, Gershon Shiri, Rips Jonathan, Daum Hagit, Rosenbluh Chaggai, Elpeleg Orly, Meiner Vardiella, Frumkin Ayala, Mor-Shaked Hagar, Harel Tamar

Abstract excerpt

Exome sequencing (ES), originally developed to detect single nucleotide variants (SNVs), has been increasingly leveraged to detect copy number variants (CNVs) through read-depth analysis, enhancing diagnostic yield with minimal computational overhead. However, chromosomal microarray (CMA) testing remains widely used. To evaluate the utility of ES as a first-tier clinical diagnostic test, we compared the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41014177
DOI: 10.1111/cge.70079
PMCID: PMC12881219

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