“The Genographic Project 2.0: Discover Your Ancestral Origins With Cutting Edge
Technology for the Genealogist” by CeCe Moore
“The greatest history book ever written is the one hidden in our DNA.”
—Dr. Spencer Wells
With the introduction of the Geno 2.0 DNA test, National Geographic has entered the
second phase of their very successful Genographic Project which has tested well over
half a million people in over 140 countries since its inception in 2005. For the first time,
chip-based genotyping technology is geared toward the ancestry enthusiast with each of
the nearly 150,000 genetic markers tested chosen specifically to offer insight into
ancestral origins across all branches of our family trees. This emerging technology aims
to be an informative tool for those striving to learn more about their ancestors’
geographic origins and promises to have a significant impact on our future understanding
of who we are.
GLOSSARY
AIMs - Ancestry Informative Markers; DNA Identifiers, informative of ancestral origin.
Autosomal DNA - Nuclear DNA, from Chromosomes 1-22.
Haplogroup - A genetic population group of people who share a common ancestor on the
direct paternal or maternal line. Haplogroups are assigned letters of the alphabet.
Mitochondrial DNA – Non-nuclear DNA, passed from mother to child.
Neanderthal and Denisovan – Extinct archaic species closely related to modern humans.
SNPs - Single-nucleotide polymorphism (pronounced snip) is a DNA sequence variation.
There are variations between human populations, so a SNP that is common in one
geographical or ethnic group may be much more rare in another.
X-DNA - Nuclear DNA, from one of the sex determining chromosomes, XX = female.
Y-DNA - Nuclear DNA, from one of the sex determining chromosomes, XY = male.
Source: http://www.isogg.org/wiki/Genetics_Glossary
INTRODUCTION
“The Genographic Project is a multiyear research initiative led by National Geographic
Explorer-in-Residence Dr. Spencer Wells. Dr. Wells and a team of renowned
international scientists are using cutting-edge genetic and computational technologies to
analyze historical patterns in DNA from participants around the world to better
understand our human genetic roots…The Genographic Project is anonymous,
nonmedical, and nonprofit, and all results are placed in the public domain following
scientific peer publication.” - Source: https://genographic.nationalgeographic.com/about/
More than 577,779 people have now participated in the National Geographic’s
Genographic Project to date. Headed by geneticist Dr. Spencer Wells, it is the most
successful project of National Geographic’s history.
PHASE ONE
- The Genographic Project was announced in April 2005.
- The goal was to sell 100,000 kits over five years.
- The first day 10,000 kits were sold. 100,000 kits were sold in the first 8 months.
- Grossed over $45 million dollars.
- Collected samples from over 75,000 indigenous people
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“The Genographic Project 2.0: Discover Your Ancestral Origins With Cutting Edge
Technology for the Genealogist” by CeCe Moore
- 524,384 people participated in Geno 1.0
- NatGeo Invested $1.7 million back into the indigenous communities that participated
- For males, test included 12 marker Y-DNA for $99 (low resolution)
- For females, test included mtDNA HVR1 for $99 (low resolution)
- About 20% transferred their results to Family Tree DNA in order to participate in
genetic genealogy
PHASE TWO = GENO 2.0
In July 2012, phase two of the project was announced. The GenoChip is specifically
designed for ancestry testing and includes SNPs from autosomal DNA, X-DNA, Y-DNA
and mtDNA. The design of the new chip was a collaborative effort between Eran Elhaik
of Johns Hopkins, Spencer Wells of National Geographic, Family Tree DNA and
Illumina. The testing is being done by Family Tree DNA in Houston.
Y chromosome DNA (Y-DNA)
The chip includes just over 12,000 Y-DNA SNPs. Ten thousand of these are completely
unique and have “never been published before”. Y-DNA is informative of your direct
paternal line (your father’s father’s father’s ancestral line). Males will be given their YDNA haplogroup.
Mitochondrial DNA (mtDNA)
The chip also covers over 3200 unique mtDNA SNPs. Mitochondrial DNA is informative
of your direct maternal line (your mother’s mother’s mother’s ancestral line). Everyone
will be given his or her mtDNA haplogroup.
Autosomal DNA and X-chromosome (atDNA and X-DNA)
Over 130,000 autosomal DNA and X-DNA SNPs were chosen for inclusion on the chip.
Autosomal DNA is potentially informative of all your ancestral lines. X-DNA follows a
unique inheritance pattern. It cannot travel through two males in your tree.
Approximately 75,000 Ancestry Informative Markers (AIMs) were chosen from about
450 populations around the world. Roughly half of these AIMs were collected from two
dozen published papers and the rest were calculated from private and public academic
datasets. Ancestry Informative Markers (AIMs) are DNA markers that show substantial
differences in allele frequency across population groups. Your unique combination can be
informative of the areas of the world where your ancestors lived.
In addition to these AIMs included are:
- 975 X chromosome SNPs
- 12,027 Aboriginal SNPs
- 10,159 Eskimo Saqqaq SNPs
Ancient Hominids
The Genographic team collected about 30,000 SNPs that they feel can help identify
interbreeding between ancient hominids and modern humans. Among these are:
- 23,962 Neanderthal SNPs
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“The Genographic Project 2.0: Discover Your Ancestral Origins With Cutting Edge
Technology for the Genealogist” by CeCe Moore
- 1,357 Denisovan SNPs
- 998 Chimpanzee SNPs
RESULTS:
Who Am I?
The NatGeo team believes that nine ancestral regions make up each of our genomes.
They are Northeast Asian, Mediterranean, Southern African, Southwest Asian,
Oceanian, Southeast Asian, Northern European and Sub-Saharan African.
According to NatGeo each of us is a blend of these nine ancestral regions, except Native
Americans, Oceanians and the Khoisan people. Our DNA is compared to 43 reference
populations, each made up of distinct blends of these nine regions. Each person receives
an estimate of which of these 9 regional affiliations and 43 populations he/she most
closely resembles genetically. The 43 populations that the Genographic Project includes
as their reference populations are: African American (from SW USA), Altaian (Siberian),
Amerindian (Mexico), Bermudian, Bougainville-Nasioi (Oceania), British (United
Kingdom), Bulgarian, Chinese, Danish, Eastern Indian, Egyptian, Finnish, Georgian,
German, Greek, Highland Peruvian, Iberian (Spain and Portugal), Iranian, Japanese,
Khoisan (Southern Africa), Kinh (Vietnam), Kuwaiti, Lebanese, Luhya (Kenya),
Malagasy (Madagascar), Mexican-American, Mongolian, Ni-Vanuatu (Vanuatu),
Northern Caucasian, Northern Indian, Pamiri (Tajikistan), Papuan (Papua New Guinea),
Peruvians from Lima, Puerto Rican, Romanian, Russians, Sardinian, Southern Indian,
Tatar (Russia), Tunisian, Tuscan (Italy), Western Indian, and Yoruban (W. Africa).
Your Story
- Discover the migration pattern taken by your ancestors thousands of years ago.
- Learn if you have any Neanderthal and Denisovan DNA.
- Unique maps will walk you step by step through the migration pattern of your ancestors,
ending with a heat map reflecting the frequency of the subclade of your haplogroup(s).
- Participate in real time research by sharing the story of your known ancestors.
Citizen Science
- Participate as a citizen scientist and aid in discoveries that will help us learn more about
our shared genetic history.
- Results can be transferred to Family Tree DNA to facilitate further participation in
genetic genealogy through projects and collaboration with citizen scientists.
- Citizen scientists are creating third party tools to get more out of the Geno 2.0 results.
How does Geno 2.0 compare to other leading autosomal DNA tests?
A significant drawback to the Geno 2.0 test is that the test includes only about 1/7 as
many autosomal DNA SNPs as found in 23andMe’s test and about 1/6 as many SNPs as
found in FTDNA’s Family Finder test. As a result, smaller segments that are specific to
certain ethnicities or populations are more challenging to discern with the Geno 2.0 test
relative to 23andMe’s test and FTDNA’s Family Finder test. The Geno 2.0 test can detect
DNA specific to a certain population if it is present in one’s genome in an amount as low
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“The Genographic Project 2.0: Discover Your Ancestral Origins With Cutting Edge
Technology for the Genealogist” by CeCe Moore
as 2%, but 23andMe’s Ancestry Composition feature can detect DNA specific to a certain
population if it represents as little as .1% of the genome.
Another drawback of the autosomal portion of Geno 2.0 is that it forces you into a
“match” with two of the 43 reference populations. The Geno 2.0 is generally of interest to
many people, but it is problematic for people who have significant genetic contributions
from more than one population. Such “admixed” individuals often find that their known
ancestry doesn’t really fit very well with the two populations that the Geno 2.0 test
assigns as the ones with which they are most closely related. Another approach would be
to determine the origins of one’s DNA segment-by-segment and chromosome-bychromosome. This would provide a more comprehensive and accurate reflection of one’s
genetic background.
It should be noted that approximately 55% of the autosomal SNPs in Geno 2.0 are also
included in FTDNA’s Family Finder, about 78% of the autosomal SNPs in Geno 2.0 are
also included in 23andMe v2 data, and about 81% of the autosomal SNPs in Geno 2.0 are
also included in 23andMe v3 data.
How can the Y chromosome SNP data be used?
The Y chromosome data is arguably the most popular portion of the Geno 2.0 test. No
other available DNA test includes as many Y chromosome SNPs as the Geno 2.0 test.
The Y chromosome data is of major help in helping men determine their most refined
haplogroup subclade. (The current version of the Y chromosome tree may be found at
http://www.isogg.org/tree/index.html.) Since the Geno 2.0 test has been released, Family
Tree DNA has discontinued their previous Y chromosome deep subclade test and is
recommending that all men interested in knowing their subclade do the Geno 2.0 test.
The cutoff for inclusion of Y chromosome SNPs on the Geno 2.0 test was about
November 2011. As a result of this, there are no Y chromosome SNPs that have been
discovered within the past year included on the Geno 2.0 chip. For example, the latest
FTDNA Y chromosome SNP from the L series that is included in Geno 2.0 is L808. That
series now includes over 2200 SNPs. Thus, in some cases, men will find that there is a
SNP available for testing at FTDNA that is more informative than those included on
Geno 2.0.
Summary
Geno 2.0 is a collaborative, unprecedented effort between National Geographic, Family
Tree DNA and genetic genealogists. The goal is to identify genetic markers that pinpoint
geographic origins in a genealogical meaningful time frame and move genetic genealogy
in an innovative new direction. We already know that the thousands of new Y
chromosome markers included on the Geno 2.0 test make this an excellent test for any
male who desires to discover his Y-DNA haplogroup subclade and learn more about his
direct paternal ancestral line origins. Time will tell what we will discover using the
mtDNA and autosomal DNA SNPs. Inarguably, this is a very exciting time for all of us
genealogists who are interested in discovering more about our ancestral origins.
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