What question did this study set out to answer?

The aim is to explore various diagnostic approaches for detecting structural variants (SVs) associated with human diseases.

March 19, 2026Genetic ClinicsOpen Access

Diagnostic Approaches for Structural Variants in Human Disease

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This review highlights diagnostic technologies for structural variants in human disease, suggesting an integrated approach for better detection.

The aim is to explore various diagnostic approaches for detecting structural variants (SVs) associated with human diseases.
Reviewed traditional cytogenetic techniques like karyotyping and fluorescence in situ hybridization.
Analyzed molecular cytogenetic tools, including chromosomal microarray analysis, for detecting SVs.
Discussed the role of next-generation sequencing and long-read technologies in improving SV detection.
Evaluated emerging technologies such as optical genome mapping for genome-wide detection of rearrangements.
Highlighted that many structural variants remain undetected by conventional methods.
Next-generation sequencing improves variant discovery but struggles with complex breakpoints.
Long-read sequencing allows for better breakpoint mapping and identification of complex chromosomal rearrangements.
An integrated, multiplatform approach is essential for comprehensive genomic diagnosis.

Usha R. Dutta (2026) studied this question.

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This review highlights diagnostic technologies for structural variants in human disease, suggesting an integrated approach for better detection.