Whole Genome Sequencing (WGS) is a robust methodology utilized in genomics research, personalized medicine, and clinical diagnostics. It entails determining the complete DNA sequence of an organism’s genome, providing understanding of genetic makeup and insights into genetic variations, evolutionary patterns, and disease mechanisms. WGS comprises: DNA extraction, library preparation involving fragmentation of DNA and addition of adapters, and sequencing using next-generation sequencing (NGS) platforms.
Bioinformatic analysis of WGS data involves assembling sequencing reads to reconstruct the genome sequence, annotating the genome, and calling variants to pinpoint differences between the sequenced genome and a reference. Illumina DNA PCR-Free library preparation protocol combines on-bead tagmentation and PCR-free chemistry. This approach ensures uniform coverage across the genome and is suitable for human WGS, de novo assembly of microbial genomes, and tumor–normal variant calling.