DNA sequencing is critical for genetic research, evolutionary studies, and personalized medicine, where it helps to uncover the genetic basis of diseases, track hereditary conditions, and guide targeted therapies. It provides a detailed understanding of an organism’s complete genetic makeup, offering insights into complex biological processes and evolutionary relationships.
Whole-Genome Sequencing (WGS) involves sequencing the entire genome, including both coding and non-coding regions. WGS provides the most comprehensive view of an organism’s genetic information, as the focus is not only on identifying genetic variants (e.g., single nucleotide variants, insertions, deletions, copy-number variation), but also on identifying rare variants, structural variations, and novel mutations in both coding and non-coding regions. Different algorithms will be applied for germline or somatic samples – the former algorithms are designed to identify inherited variants present in all cells, whereas the latter algorithms focus on detecting mutations acquired in specific tissues which are present only in a subset of cells thus requiring specialized methods to account for tissue purity and heterogeneity.