Challenges in Next-Generation Sequencing
The goal of Next Generation Sequencing (NGS) is to create large, biologically meaningful contiguous regions of the DNA sequence—the building blocks of the genome—from billions of short fragment data pieces. Whole genome “shotgun sequencing” is the best approach based on costs per run, compute resources, and clinical significance. Shotgun sequencing is the random sampling of read sequences from NGS instruments with optimal coverage. NGS coverage is defined as: Number of reads x (Read Length/Length of Genome). The number of reads is usually in the millions with the read length and length of genome quoted in base pairs. The length of the human genome is about 3 billion base pairs.