Illumina Announces Phasing Analysis Service for Human Whole-Genome Sequencing

  Illumina Announces Phasing Analysis Service for Human Whole-Genome

   Human Whole-Genome Phasing Solution Expands Insight into Complex Genomes

Business Wire

SAN DIEGO -- July 18, 2013

Illumina, Inc. (NASDAQ:ILMN) today announced the availability of its Phasing
Analysis Service, provided by the company’s FastTrack Services lab through the
Illumina Genome Network (IGN). The new sample-to-answer service delivers human
whole-genome phase information, empowering gene mapping studies with a more
comprehensive view of genomic variation. With phase data, researchers can
better understand the effect of genotype on phenotype and variant interaction
within a gene.

Conventionally, whole-genome sequencing generates a single consensus sequence
without assigning variants to specific homologous chromosomes.Phase
information, however, can identify segments of connected variants,
facilitating ancestry determination in population studies.Further, in
instances where two potentially deleterious variants occur in a gene, knowing
how these variants impact the function of one or both copies of the gene is
useful in identifying genetic causes of disease. Illumina’s Phasing Analysis
Service reduces reliance on statistical inference methods and availability of
trios, thereby delivering more accurate phase information at a fraction of the
cost of conventional methods.

“We are thrilled to be the first company to offer the research community this
comprehensive human whole-genome sequencing and phasing service,” said
Christian Henry, Senior Vice President and General Manager of Illumina’s
Genomic Solutions business. “Customers who participated in the beta testing
used the service for a diverse range of applications, from human population
studies to the identification of variants causing rare disease. Early customer
feedback has been overwhelmingly positive.”

Illumina gained access to the synthetic long read technology that enables
human whole-genome phasing through its acquisition of Moleculo, Inc. announced
in January 2013. Sample preparation kits for generating synthetic long reads
and human phasing data are in development.

The new Phasing Analysis Service is available for immediate ordering as an
add-on to the IGN Whole-Genome Analysis Service, delivering results within
twelve weeks. For more information, please visit


Illumina( is a leading developer, manufacturer, and marketer
of life science tools and integrated systems for the analysis of genetic
variation and function. We provide innovative sequencing and array-based
solutions for genotyping, copy number variation analysis, methylation studies,
gene expression profiling, and low-multiplex analysis of DNA, RNA, and
protein. We also provide tools and services that are fueling advances in
consumer genomics and diagnostics. Our technology and products accelerate
genetic analysis research and its application, paving the way for molecular
medicine and ultimately transforming healthcare.

Forward-Looking Statements

This release may contain forward looking statements that involve risks and
uncertainties. Important factors that could cause actual results to differ
materially from those in any forward-looking statements are detailed in our
filings with the Securities and Exchange Commission, including our most recent
filings on Forms 10-K and 10-Q, or in information disclosed in public
conference calls, the date and time of which are released beforehand. We do
not intend to update any forward-looking statements after the date of this


Illumina, Inc.
Rebecca Chambers, 858-255-5243
Jennifer Temple, 858-882-6822
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