Variant and structural variant analysis using long-read data

Resequencing refers to the process of sequencing a genome or a specific region of a genome for which the sequence is already known, with the aim of identifying variations, such as single nucleotide polymorphisms (SNPs), or structural variants, compared to a reference sequence. It is widely used in various fields, including population genetics, evolutionary biology, clinical genetics, and agriculture. It enables researchers to investigate genetic variation within and between populations, identify disease-causing mutations, study evolutionary processes, and breed crops with desired traits.

Long-read sequencing has significantly influenced the field of resequencing by offering several key advantages over traditional short-read sequencing methods including the much improved detection of structural variants, better phasing of variants, and enhanced resolution of complex genomic regions. With continuous improvements in accuracy and yield, long-read sequencing is now also challenging one of the strongholds of short-read sequencing: the accuracy of single nucleotide variants. Another advantage of long-read (single molecule) sequencing is the ability to directly determine base modifications, without the need for separate experimental steps and sequencing (needed in short-read sequencing)