Sequencing complete human genomes at a significantly higher throughput and much lower cost
than other technologies, Complete Genomics will open up exciting new opportunities in genomic,
medical, and translational research.
In the future, Complete Genomics’ sequencing center will provide an array of applications including:
Cancer sequencing
Transcriptome analysis
Small RNA profiling and discovery
Methylation
Cancer Sequencing
Cancer is a complex genomic disease in which a cell’s genetic program goes awry. Distinct cancer types
can arise from different tissues, and subgroups of tumors within a single tissue type may behave differently.
Understanding the molecular mechanisms that drive a normal cell to become a cancerous cell requires analyses
from multiple molecular angles.
Investigators are looking for ways to accelerate the identification of vulnerabilities within cancerous
cells and to develop strategies to attack these targets. Understanding the molecular basis of cancer is the
key to improving prevention, detection, diagnosis and treatment of this complex disease.
Complete Genomics plans to support cancer programs by providing integrated expertise in characterizing
cancers’ genetic alterations:
- Identifying large-scale structural variation
- Detecting chromosomal rearrangements
- Identifying mutations
- Profiling gene expression
- Characterizing changes in methylation
Transcriptome Analysis
Researchers are studying the transcriptome to better understand important cellular processes
such as cell differentiation, organ damage and repair, and tumor initiation and progression.
The transcriptome is the set of all RNA molecules transcribed from the genome. These RNA molecules
include messenger RNAs (mRNAs), which serve as templates for protein synthesis. The transcriptome can
vary with external environmental conditions, and it reflects the genes that are being actively expressed
at any given time. Combining DNA and transcriptome analysis provides a comprehensive solution that will
further enable researchers to understand genes and non-coding RNAs throughout the genome.
Complete Genomics plans to offer unprecedented sequencing coverage of the complete human
transcriptome, including complete full length sequences and quantities of all transcribed RNA
molecules. These data will help researchers identify distinguishing features in the transcriptional
profile of stem and other cell types and better understand how breakdowns in molecular pathways can
lead to complex diseases such as cancer.
Small RNA Profiling and Discovery
There are several hundred microRNAs (miRNAs) encoded in the human genome whose main function is to
down-regulate gene expression. Several thousand human genes, about one-third of the whole genome,
are potential targets for regulation by these miRNAs.
Just as miRNA is involved in the normal functioning of cells, dysregulation of miRNA is associated
with the onset of diseases such as cancer and heart disease. Researchers are studying miRNA with the
goal of developing miRNA-based diagnostics and therapeutics.
Complete Genomics plans to provide a service for small RNA expression, including miRNAs, to help
companies identify variability in both mature miRNA sequences and sequences that belong to novel
miRNA genes.
DNA Methylation
DNA methylation plays a critical role in the regulation of gene expression and is an essential
mechanism for guiding normal cellular development and for maintaining tissue identities.
DNA methylation can give rise to imprinting, i.e. the silencing of one of the alleles in a gene pair.
Such imprinting can present a problem when the unmethylated allele of a gene that serves a protective
function such as tumor suppression is damaged.
Researchers are interested in studying the role that DNA methylation patterns play in both common and
complex diseases. The commonality of these patterns across samples of a particular phenotype may be a
signature that links it to an underlying trait or disease. Quantitative methylation measurement at the
single-CpG-site level offers the highest resolution for understanding such epigenetic changes.
Complete Genomics' sequencing technology will enable the discovery of methylation variable positions
(MVPs) across the entire genome through sequencing of bisulfite-converted DNA.
Top of page