In genomics, determining the depth and uniformity of reads across a target region is crucial for accurate variant calling and assembly. A tool designed for this purpose assesses the number of times each base in a target region is read during a sequencing experiment. For example, if a specific base is read 10 times, it is said to have 10x coverage at that position. This metric provides insights into the reliability and completeness of the sequencing data.
Sufficient depth and even distribution of reads are essential for confidence in downstream analyses. Uniform, high-coverage data ensures that potential errors are minimized, enabling researchers to identify genuine variants and accurately reconstruct genome sequences. Historically, achieving this depth required significant resources, but advancements in sequencing technologies have made high-coverage sequencing more accessible, facilitating breakthroughs in diverse fields like personalized medicine and evolutionary biology.
