Description

Whole-Genome Resequencing (WGS) involves sequencing the entire genome to interpret all common and rare variant information across the genome. It provides a comprehensive assessment of single nucleotide polymorphisms (SNPs), insertion-deletion variants (InDels), structural variations (SVs), and copy number variations (CNVs).

Features

• Capable of identifying a large number of variant sites.
• Analyzes variant sites between different individuals' genomes and annotates the variant genes.

Analysis Content

Common analysis content in genomics research includes SNP, InDEL, CNV, and SV detection and annotation. Utilizing third-generation sequencing technologies, it is easier to detect large structural variants such as gene fusions and HLA typing. The three core products offered by BGI Genomics for genomics research provide standard analysis, advanced analysis, and personalized customized analysis services to meet various analytical needs.

Standard Analysis

• Data quality control
• Alignment with reference genome
• SNP and InDel detection and annotation
• Somatic SNV/InDel/CNV/LOH detection and annotation
• HLA analysis