DNA testing is expanding rapidly. The various genealogy DNA testing companies used to test for 25 markers. Then they expanded to 37 markers. Now some test for 67 markers. Not enough? Hardware is now available that tests for up to 500,000 custom markers. That should be enough for a while.
While this hardware is not yet available for genealogy testing, I suspect it will be within a few years. Today's announcement comes from Illumina, Inc., a company that supplies testing machines to DNA laboratories. This machine is not designed solely for genealogy testing, but for many medical purposes as well. Even so, I suspect that at least one of the genealogy DNA testing labs will be purchasing this device or a similar device before long. There is no need to test 500,000 markers for genealogy purposes, but such a machine could be used to test "only" 100 or 200 markers or some such limited number for genealogy purposes.
Here is the announcement from Illumina, Inc.:
Illumina Announces First Customer Shipments of the Omni5 BeadChip
Revolutionary Microarray Provides Unprecedented Coverage of the Human Genome and the Flexibility to Tailor Studies with up to 500,000 Additional Custom Markers
SAN DIEGO, Jul 25, 2011 -- Illumina, Inc. ILMN +1.19% today announced that it has begun shipping the HumanOmni5-Quad DNA Analysis BeadChip (Omni5), the new flagship array of the Omni family of microarrays.
Featuring more than 4.3 million variants per sample selected from the International HapMap Project and the 1000 Genomes Project, the Omni5 offers flexibility to include up to 500,000 custom markers. With the ability to target variation down to 1% minor allele frequency, this array dramatically expands the number of rare variants that can be robustly and efficiently studied to elucidate the genetics underlying complex human disease, making the Omni5 the most powerful genotyping array to date for whole-genome studies.
"The Omni5 is the most powerful and versatile whole-genome array Illumina has ever produced," said Illumina's Christian Henry, Senior Vice President, General Manager of Life Sciences and Chief Financial Officer. "The vast number of specially selected markers will allow our customers to explore an unprecedented range of human variants, including those occurring at extremely low frequencies, as they ascertain the genetic architecture of complex traits and diseases. Moreover, the Omni5 enables researchers to include an additional 500,000 custom markers so they can tailor their studies to target specific regions of the genome with higher density, focus on populations of interest, or incorporate variants identified through whole-genome or targeted sequencing studies."
"HapMap-based Genome Wide Association Studies (GWAS) have provided a massive step forward in the study of complex diseases," said Dr. Mark McCarthy, Robert Turner Professor of Diabetic Medicine at the Wellcome Trust Centre for Human Genetics at the University of Oxford, "but it's clear that there is much more to discover and understand. The Omni5 now provides the community a tool to dig much deeper into the genetics of disease by providing increased coverage of both common and rare variation. We also see the custom flexibility of the Omni5 as an exciting feature that will allow us to enhance traditional tagSNP-based GWAS with variants identified in our own sequencing experiments."
The Omni5 represents a major achievement in Illumina's Omni roadmap, announced in late 2009, which has provided researchers a flexible series of microarrays that feature novel, common, and progressively rare variants identified from the 1000 Genomes Project. In addition to providing extensive coverage of human variation down to 1% minor allele frequency, the content on the Omni5 offers unparalleled coverage of high-value regions of the genome associated with disease. These include genic regions, the MHC region, and nonsynonymous SNPs, all of which have a higher likelihood of harboring disease-related variants. The array also features almost 5,000 indel and multi-base substitution markers selected by the 1000 Genomes Project, which can help researchers elucidate a better understanding of how structural variants affect traits and diseases.
A high-throughput 4-samples-per-array format provides a capacity of nearly 20 million variants on a single BeadChip and throughput of more than 460 samples per week. It can be scanned using the HiScan(R) or iScan System, and is fully compatible with Illumina's automation solutions for processing hundreds to thousands of samples per week.
For more information about the Omni5 BeadChip, please visit www.illumina.com/omni5.
Illumina (http://www.illumina.com) 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.
This release contains 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 release.
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