Long-read sequencing

Long-read sequencing enables the sequencing of DNA molecules that are much longer (several kilobases instead of a few hundred base pairs) compared to short-read technologies.

What is long-read sequencing used for?

Long-read sequencing offers significant advantages in genetic diagnostics in terms of accuracy, quality, uniformity and completeness. This leads to a better diagnostic yield. Many structural variants, such as insertions, deletions, duplications, and inversions, are difficult to detect with short-read sequencing because they are longer than their read length, involve repetitive sequences, or may occur in regions that are difficult to sequence.

When is long-read sequencing useful?

Long-read sequencing is useful in the following cases

• Identification of structural variants (both balanced and unbalanced) with high accuracy and resolution
• Analysis of complex genomic regions, e.g. N-terminal exons with high GC content, regions with extensive repetitive sequence or high pseudogene homology
• Identification of variants in non-coding regions of the genome, e.g., located in regulatory elements or deep-intronic
• Clarification of imprinting disorders (DNA methylation) via HiFi sequencing