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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.
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