Human Whole Genome Sequencing
Empowering precision medicine and research by decoding all 3.2 billion base pairs of the human genome with unparalleled accuracy.
What is Human Whole Genome Sequencing (WGS)?
Human Whole Genome Sequencing (WGS) is the process of determining the complete DNA sequence of an individual's genome at a single time.
While targeted panels and exome sequencing (WES) focus only on the protein-coding regions (which make up just 1-2% of the genome), WGS looks at the remaining 98%. This allows researchers and clinicians to discover non-coding mutations, structural variations, and regulatory elements that may be responsible for diseases that other tests miss.
Quick Facts: Yaazh Xenomics WGS
Interrogates 100% of the genome (exons, introns, regulatory regions)
Clinical/Rare disease diagnostics, oncology, and pharmacogenomics
Technology: High-throughput NGS (Illumina / MGI / Nanopore)
Read Depth: Standard 30x depth (Clinical 100x), somatic tumor >100x

Clinical and Research Applications
Rare Disease Diagnostics
WGS is increasingly becoming the go-to test for patients with undiagnosed rare conditions. By analyzing the entire genome, clinicians can pinpoint structural variants and non-coding mutations that standard tests often miss, putting an end to the "diagnostic odyssey".
Precision Oncology
Through Tumor-Normal WGS, researchers can profile the complete mutational landscape of a tumor. It accurately estimates Tumor Mutational Burden (TMB) and identifies structural variants for personalized, targeted cancer therapies.
Population Genomics
For research initiatives, WGS is the best tool for identifying novel variants, understanding genetic diversity across human populations, and discovering the underlying genetic basis of complex, polygenic diseases.
Comparison
| Sequencing Type | Genomic Coverage | Best Used For | Variant Detection Capability |
|---|---|---|---|
| Whole Genome Sequencing (WGS) | ~100% (Coding & Non-coding) | Undiagnosed rare diseases, comprehensive oncology | SNVs, Indels, Large SVs, CNVs, structural variants across the entire genome |
| Whole Exome Sequencing (WES) | ~1-2% (Protein-coding only) | Known genetic disorders and standard clinical diagnostics | Primarily SNVs and Indels restricted to exons. Cannot map non-coding elements. |
| Targeted Gene Panels | < 1% (Specific gene sets) | Testing for specific, known genetic conditions | Highly focused for specific genes to identify well-known variants |
