WGS (NGS)

Whole genome re-sequencing with Illumina or DNBSEQ is a popular method for identifying genomic variants, including single nucleotide polymorphisms (SNPs), structural variants (SVs), and copy number variations (CNVs). The BMKCloud WGS (NGS) pipeline is easily deployed in a few steps, using a high-quality and well-annotated reference genome to identify genomic variants. After quality control, reads are aligned to the reference genome and variants are identified. Their functional effect is predicted by annotating the corresponding coding sequences (CDS).