Introduction
Human Whole Genome Sequencing
Human whole genome sequencing (hWGS) empowers researchers to delineate the complete genetic makeup of individuals, providing a comprehensive characterization of entire human genomes. This method facilitates the identification of genomic variation information, encompassing single-nucleotide polymorphisms (SNPs), insertions and deletions (InDels), structural variations (SVs), and copy number variations (CNVs), all within a single and cost-efficient assay. (Yang, p. 2020)
Applications of Human Whole Genome Sequencing
- Inherited genetic disorders
- Cancer research
- Pathogenic mechanisms
- Human population ancestry (Park, 2016)
Benefits of Genoxvision Human Whole Genome Sequencing
- Comprehensive data of superior quality, encompassing entire human genomes, to document SNPs, InDels, SVs, and CNVs.
- Streamlined identification of repetitive sequences using third-generation sequencing long-read technology.
- Cost-effective approaches, such as low-pass sequencing and imputation services, tailored for large cohorts or intricate research in complex diseases for genome-wide association studies (GWAS).
- Utilization of a professional bioinformatics pipeline and globally recognized, top-tier software to furnish customers with dependable and publication-ready data.
hWGS Specifications: DNA Sample Requirements
hWGS Specifications: Sequencing and Analysis
Project Workflow of hWGS Services
From the preparation of samples and libraries, through DNA sequencing and data quality control, to bioinformatics analysis, the company delivers top-notch products and professional services. Each step adheres to rigorous scientific standards and meticulous design, ensuring the attainment of high-quality research results.