Introduction
Some monogenetic diseases demonstrate complicated phenotypes, making it hard to find the causes of the complicated or combined phenotypes and diagnose the monogenetic diseases. Compared to cWES, clinical whole genome sequencing (cWGS) makes the most comprehensive detection and analysis all along the human genome, reaching a higher possibility of a diagnosis.
What clinical challenges are targeted by XOME™ Clinical Whole Genome Sequencing (cWGS)?
Hereditary diseases, or genetic disorders are diseases caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).
There are many wildly used methodologies to detect the abnormalities in the DNA sequence which underlies the genetic disorders. Each of these methodologies target part of the variants or regions. For example, Sanger Sequencing targets SNVs/Indels in a certain region of a certain gene; CNV detection methodologies like CMA or CNV-seq target micro-deletions or micro-duplications but not SNVs/Indels; Exome Sequencing, on the opposite, mainly targets SNVs/Indels and is less capable of detecting micro-deletions or micro-duplications.
Clinical whole genome sequencing (cWGS), on the other hand, is a comprehensive method for analyzing entire human genomes. Unlike targeted methodologies such as exome sequencing or panel sequencing, which analyze a limited portion of the genome, or methodologies which target certain types of variants like CNVs or SNVs/Indels, clinical whole genome sequencing delivers the most comprehensive overview of the entire genome for a comprehensive catalog of variant types (see below), reaching a higher possibility of a diagnosis.
Applicable Clinical Scenarios
- A patient with abnormal clinical manifestations which are suspected to be caused by hereditary diseases.
- A patient who has a family history of monogenic diseases.
- A couple who have experienced a previous miscarriage without a clear diagnosis.
Important features of XOME™ Clinical Whole Genome Sequencing (cWGS)
It allows for the simultaneous analysis of over 22,000 human genes, including more than 4,900 known disease-causing genes from the OMIM database and over 6,400 single-gene disorders, with a focus on genes relevant to the proband's phenotype. Detectable variations include point mutations (SNVs), small insertions/deletions (InDels), exon-level copy number variations (ExonCNVs), large copy number variations (Large CNVs), mitochondrial gene variations, as well as structural variations (SVs) such as loss of heterozygosity (LOH), translocations, inversions, and certain dynamic mutations like short tandem repeats (STRs).
| Product Name | XOME™ Clinical Whole Genome Sequencing (cWGS). |
| Gene numbers | Over 22,000 protein coding genes. |
| Sequencing range | Whole genome |
| Variant types (Official report) | SNV, Indel, CNV, Triploid, Aneuploid, Mitochondrial Variants. |
| Variant types (Supplementary report) | Inversion, Unbalanced Translocation, Balanced Translocation, Dynamic Mutation, LOH, and Pathogen Infection. |
| Sequencing depth | ≥40X |
| 20X coverage | ≥90% |
| Sample type | Peripheral blood / Genomic DNA / Amniotic fluid (Trio) |
*Note: The amniotic fluid sample must be sent along with the samples from the fetus’s parents.
Why Choose XOME™ Clinical Whole Genome Sequencing (cWGS)
- Accurate
The mean depth of BGI-XOME cWGS is over 40X, and the 20X coverage ≥90%.
- Comprehensive
BGI-XOME cWGS provides comprehensive and cost-effective detection of point mutations, small indels, CNVs, mitochondrial variations, LOH, translocations, inversions, and dynamic mutations across the entire genome, covering all 3 billion base pairs and over 22,000 protein-coding genes in a single test.
- Multiple Sample Types
cWGS product can accommodate samples from saliva, peripheral blood, genetic DNA and amniotic fluid.
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The XOME™ Clinical Whole Genome Sequencing service process
Step 1
Physician orders test
Step 2
Sample collected
Step 3
Sample shipped to BGI and analyzed
Step 4
Results sent to physician
