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Science

DNAPrint® 's Core Technology
Our proprietary mapping strategy, maps of Ancestry Informative Markers (AIMs), and proprietary, patent-pending methods and algorithms constitute a powerful genomics discovery platform that we call ADMIXMAP. The ADMIXMAP technology platform is powered by a suite of proprietary systems and processes wholly developed at DNAPrint®, including:

AIMs (Ancestry Informative Markers).
About 0.1% of the 3 billion bases of our DNA are different from person to person and these locations are called polymorphisms. Of all polymorphisms, only a few percent are different as a function of ancestry and these are called AIMs (Ancestry Informative Markers). AIMs are special genetic polymorphisms that carry information about population structure, inter- and intra-individual diversity and our history as a species. They are unique for every species and those that are the most powerful in humans can only be discovered and applied for the first time once. DNAPrint® was the first to validate human AIMs for use in high-throughput screening panels and to reduce their use to genome-screening applications. Our scientists have authored and filed patent applications covering the human genomes best AIMs and more importantly, key methods for using them to assist with designing clinical trials, epidemiology studies, or inferring elements of certain physical or clinical traits such as skin color or drug response. These AIMs and AIM-based methods are important because our links to human disease, drug response and elements of our physical appearance are best identified through a detailed understanding of human heredity and identity. Because we were the first company to file patent applications for AIMs, and methods for using them to hone in on drug response genes and predict outward expression of complicated human phenotypes, we believe DNAPrint® is at the forefront of the future of complex genetics analysis.

ADMIX Platform and Genomaps.
Since the disclosure of the human genome, DNAPrint® has researched and optimized a method for using AIMs to perform pan-genome screening. The method, titled Admixture Mapping ("Mapping") allows us to identify genes that underlie human traits or conditions for pennies on the dollar spent by our competitors. In addition, Admixture Mapping can be applied to natural, out-bred populations rather than to genetic isolates, the latter of which are not always representative of human diversity due to genetic heterogeneity.

Once the genome was sequenced, and until DNAPrint® mined this sequence and built systems for executing this method, genome screening was prohibitively expensive. Mapping relies on, among other things, the accurate measure of Bio-Geographical Ancestry Admixture, which is the blending of heritage within individuals. In human populations, and on a continental level, there are individuals of relatively unadmixed Bio-Geographical Ancestry ("BGA"), such as Sub-Saharan Africans from Nigeria, Europeans from Northern Europe, and East Asians from Northern China and Native Americans from isolated regions of Southern Mexico. In other places, such as the US, there are recently (in evolutionary time) admixed peoples such as African Americans (a blend of Sub-Saharan African and Indo European BGA) and Hispanics (usually a blend of Native American and European BGA). In recently admixed peoples, the DNA is made of a relatively small number of very large blocks. The Mapping method is applied to these populations, using maps of AIMs throughout the genome, allowing pan-genome coverage with as few as 2,000 markers or a few hundred to a few thousand dollars per subject. Other methods of genome scanning cost hundreds of thousands of dollars per subject.

In addition to Mapping, our ability to finely measure population structure is crucial for the rational design of clinical trials and epidemiology studies. In these types of studies, scientists often find results that are called false positives or false negatives because of hidden, cryptic population structure in their patient sample. For example, consider that you are a drug developer and you have designed a scan of the genome to identify genes underlying human pigmentation as possible drug targets. You would not want to simply compare African Americans (who tend to have darker pigmentation status of skin, hair and eyes) with Europeans (who tend to have lighter pigmentation status) because doing so would result in the identification of many hundreds of thousands of ancestry rather than pigmentation markers. In other words, we would find the regions of the DNA that explain the differences between the groups in terms of their genetic histories rather than the differences in terms of their pigmentation status, which is a very different thing. Markers of ancestry which correlate with pigmentation are not necessarily involved in the actual process of pigment expression and would therefore have nothing to do with expression of pigmentation traits. Since your goal was to identify drug targets in human pigmentation genes, your study would have failed. Most researchers are astute enough to not design such flawed studies, and can use self-descriptions or certain physical attributes to help them design their studies properly, but they are working half-blind because subtle admixture is often not visible by eye and not even known to subjects. Not only is it crucial to know whether a study subject is of admixed ancestry, but it is important to be able to quantify that admixture on multiple levels if one hopes to design valid clinical trials or epidemiology projects. To learn more about how DNAPrint® measures genomic or BioGeographical ancestry, please see www.ancestrybydna.com.