Ambry Genetics Introduces Sequence Capture for High Throughput Sequencing Applications on Multiple Next Gen Sequencing Platforms

March 20, 2009

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Aliso Viejo, CA, March 20, 2009 - Ambry Genetics today announced capabilities of performing sequence capture for the Illumina® or Roche® Next Generation Sequencing platforms. Customers will have the option of choosing either custom 385K or pre-designed 2.1M high density arrays available through Roche® NimbleGen. Sequencing can be done in-house at Ambry on the Illumina® GA II, or returned to the customer for sequencing on their platform.

Ambry’s CSO, Anja Kammesheidt states, "We are pleased to be offering these services to our customers. Sequence capture in conjunction with Next Generation Sequencing provides a powerful tool kit that allows us to look at megabases of sequence in a few steps without having to go through cumbersome gene specific or long range PCR. The microarrays are used similar to a magnet to capture regions of interest. Subsequently, via sequencing-by-synthesis one is able to generate simultaneous sequence reads from millions of surface amplified DNA fragments"

In this process, a sample is prepared for sequencing by shearing of genomic DNA, hybridization of the fragments against custom or predesigned oligo tiling arrays containing candidate regions, followed by washing steps which remove non-specific targets and a final elution of the target DNA. The eluted amplified fragments are called a library, which is used to create clusters, surface-bound colonies of DNA, for example on the surface of the Illumina® GAII flow cell. These clusters are then sequenced on the genome analyzer using polymerase and differently labeled fluorescent nucleotides. Currently, sequences generated are typically 36-54 bp long, for a total of up to ~1.0 GB per lane of each flow cell with paired-end sequencing, even though longer read lengths can be achieved. Data is aligned back to reference sequences and scored for coverage, SNPs, and mutations.


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About Ambry Genetics ®

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 25 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

Media Contact
Mickie Henshall
Chief Marketing Officer
REALM IDx
mhenshall@realmidx.com

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