Low Pass Sequencing (1–3x Coverage)

The three main types of sequencing are whole genome sequencing (WGS), whole exome sequencing (WES), and targeted sequencing. WGS covers the entire genome, WES focuses on the protein-coding regions, and targeted sequencing analyzes specific genes or regions of interest. Techniques like low pass sequencing are increasingly used within whole genome strategies to balance cost with comprehensive genomic insight.

Low coverage sequencing refers to sequencing a genome at a lower depth, usually between 1x and 5x, rather than the standard 30x or higher used for deep sequencing. Low pass sequencing is a form of low coverage sequencing that relies on statistical imputation to fill in missing data points, enabling accurate identification of common genetic variants while significantly reducing costs, making it ideal for large-scale research and screening projects.

Ultra low pass whole genome sequencing involves sequencing the genome at an extremely low depth, often below 1x coverage. Despite minimal initial data, imputation algorithms enhance the results, allowing for broad genomic analysis. This is particularly valuable in large population studies, biobanking, and preliminary genetic screening, where cost-effectiveness and scalability are critical.