Human whole-genome sequencing (WGS) offers the most detailed view into our genetic code. WGS has the ability to evaluate every base in the genome and navigate the complexity of genomic variants that make us unique.
Previously a challenging application, human whole-genome sequencing is now one of the simplest. Advances in library preparation, sequencing, bioinformatics, and variant analysis have made it possible to go from sample to report in less than 30 hours. Whether you’re performing a comprehensive genomic evaluation or using the genome as a foundation for other studies, human whole-genome sequencing has never been more accessible.
The human genome is complex, with variations from small, single nucleotide changes to large chromosomal rearrangements, and virtually everything in between. Human whole-genome sequencing is the most comprehensive application for detecting all of these variant types in a single assay.1–8
Variant types include:
Our rapid workflow includes PCR-free library preparation, high-accuracy sequencing, and FPGA-accelerated analysis with a genomic evaluation platform for variant analysis and reporting.Read White Paper
Our three-step human whole-genome sequencing workflow provides a fully featured, rapid solution for labs. The resulting WGS delivers high-quality insights across the entire genome for all variant classes.See Workflow Details
SpliceAI is a deep neural network that accurately predicts splice junctions. Splice mutations are especially common in rare disease, autism spectrum disorders, and intellectual disability.9View Open Source
ExpansionHunter can be used to detect large expansions of short tandem repeats, which have been shown to cause diseases like Fragile X syndrome, amyotrophic lateral sclerosis, Friedreich ataxia, Huntington’s disease, and other disorders.10,11View Open Source
PrimateAI is a deep neural network using hundreds of thousands of common variants from six non-human primate species. It allows for systematic identification of pathogenic variants in humans.12View Open Source
Spinal muscular atrophy is caused by loss of the SMN1 gene, but analysis can be challenging because SMN1 and SMN2 are nearly identical. This software accurately identifies SMN1 and SMN2 copy number from human whole-genome sequencing data.13View Open Source
Dr. Christian Marshall of The Hospital for Sick Children explains how clinical best practices can help enable WGS for diagnosing genetic diseases.
Dr. Matt Might is Professor and Director of the Hugh Kaul Precision Medicine Institute. His son, Bertrand, was the first person to be diagnosed with NGLY1 deficiency, an ultra-rare disorder.
The DRAGEN platform, embedded in TruSight Software Suite, enables GeneDx to scale to whole-genome analysis and identify variants with precision.
Andrew Gross, PhD and Shimul Chowdhury, PhD present recent advances calling CNVs and SVs from WGS.
Mike Eberle, PhD discusses advances in WGS bioinformatics for calling repeat expansions and paralogs.
Eric Rush, MD and Tanner Hagelstrom, PhD, FACMG discuss comprehensive variant calling with WGS in a rare disease diagnostic laboratory.
The NovaSeq 6000 System offers four flow cell configurations suitable for human whole-genome sequencing. When fast turnaround is required, the SP flow cells are ideal for singleton WGS and the S1 flow cells for trio WGS. S2 is a quick, powerful, and cost-effective option for two or three WGS trios. S4 offers unprecedented throughput, supporting 16 WGS samples at 40× coverage or 24 WGS samples at 30× coverage. Each NovaSeq 6000 sequencing run can accommodate one or two flow cells for flexibility and scalability.View Kits
The consortium was formed to provide practical guidance and support the development of standards for the use of clinical whole-genome sequencing.Read Publication
This paper compares whole-genome sequencing to chromosomal microarray analysis for identifying different types of genetic variants.Read Publication
The iHope Program demonstrated the benefit of WGS in a resource-limited dysmorphology clinic in northern Mexico.Read Publication
Rare diseases affect about 1 in 2,000 people. There are more than 7,000 known rare diseases and more discovered every year.
Whole-genome sequencing has the potential to end diagnostic odysseys for patients with rare disease.
Population genomics programs integrate large-scale genomic and clinical data into a learning health system, driving health care innovation.
Cancer whole-genome sequencing informs analysis of oncogenes, tumor suppressors, and other risk factors.
NIPT analyzes cell-free DNA from a maternal blood sample to screen for certain chromosomal conditions as early as the first trimester.