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"The Advantages of Long Reads for the Detection of Structural Variants"

Long-read sequencing technology has enabled the detection and characterization of structural variations (SVs) at a higher resolution than ever before, including deletions, insertions, duplications, inversions, and translocations, with significant impacts on gene expression and disease development.

The technology generates tens of thousands of base pair-long reads, allowing for the detection of larger SVs that may be missed by short-read sequencing. Although challenges such as the high error rate remain, the benefits of haplotype-resolved assemblies and accurate detection of SVs have already led to new insights into the genomic basis of diseases such as cancer, autism, and schizophrenia. Long-read sequencing has the potential to greatly improve our understanding of health and disease.

This white paper from Geneyx introduces the use of long-read sequencing for the detection of structural variants, the technologies behind long-read sequencing, the performance characteristics of long-read sequencing for structural variant detection, and the advantages of long reads for understanding genomic diversity and disease.

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