Figure 2.
Relationship between sequencing coverage, base accuracy, read length, DNA quality, and feasible cohort size—showing how different study designs affect outcomes such as variant discovery and genotyping accuracy. For rare disease studies, long-read sequencing offers unmatched power in uncovering novel variants, whereas in common diseases, the emphasis will be toward larger sample sizes with lower coverage to increase statistical power in population-scale (PS) genetics and genome-wide association studies (GWAS).
