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review of scientific and news articles on dna testing and popular genetics

US, EU Move to Regulate Direct-to-Consumer Genetic Testing

Sunday, November 28, 2010

Discussion is accelerating in the United States and European Union to regulate private genomic testing that provides consumers medical information, according to Science magazine and the European Journal of Human Genetics. No mention is made in the reams of white papers about ancestry testing, but some of the pitfalls and bureaucratic morasses in the thinking about true genetic/medical testing are fairly ominous, if not silly.

"Although there has been speculation about the potential psychosocial harms of testing [that is, genomic medical testing], such as an increase in anxiety or encouragement of fatalistic behavior, there are, to date, few studies addressing these concerns," writes the reporters for Policy Forum in the Oct. 8 issue of Science. "The limited evidence tends to be reassuring, even for risk information associated with relatively serious ailments...however, the scope for potential harm from unnecessary or unproven treatment after genetic risk assessment is an important unstudied question" (pp. 181f.).

We commend scientists and physicians for finding a new field of study divorced from reality but have to wonder what they will do about ancestry testing once they have conquered and tamed Frankenstein's elder monster. We suggest the following guidelines:

  • Labeling on Internet sites and Zen Shopping Carts that explicitly states, "The claims for this ancestry product have not been evaluated by the U.S. Government Accountability Office (GAO), U.S. Federal Trade Commission (FTC), House Energy and Commerce Committee, Food and Drug Administration, National Institutes for Health or Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA 98195 USA."
  • Predictive ancestry information may be hazardous to your progeny.
  • No animal has been harmed in the production or clinical evaluation of this ancestry test.
  • If you discover you have ancestry you did not expect, take a deep breath. Then take a healthy dose of skepticism, followed by two aspirins and a glass of water.
We're waiting for the next gambit from the genius bar in Washington!
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Autosomal DNA Testing is Newest Wave

Wednesday, April 07, 2010

DNA Consultants’ 18 Marker Ethnic Panel Reveals Native American, Jewish, Other Hard-to-Find Lines in Your Family Tree

PHOENIX – (April 7, 2010) – The market leader in autosomal DNA testing for ancestry, DNA Consultants announced that it has introduced the latest enhancement to its DNA Fingerprint Test™ ancestry tool. The add-on to its popular all-in-one ancestry tracing product is called the 18 Marker Ethnic Panel and sells for $50.00.

“With the 18 Marker Ethnic Panel, you can easily verify Native American, Ashkenazi Jewish, African and other ethnic lines that may be hidden in your family tree,” said Donald Yates, the company’s founder and principal scientist. “If you get a check mark for Native American marker I or II from either parent, you have Native American ancestry…it’s that simple.”

Like the DNA Fingerprint Test upon which it is based, the 18 Marker Ethnic Panel uses the same unique DNA profile familiar from television police shows like CSI. The markers were discovered by the company last August after statistical validation showing they reflected population splits in early human migrations.

“We’re not talking about ancient history,” said Yates. “These markers reflect recent genetic contributions to your overall ethnic mix within a relatively shallow time frame of about the last ten generations.” The reason, he said, was that Native American and the other types of DNA are “so distinctive their genetic signature lasts and never completely goes away.”

The 18 Markers include tell-tale evidence for Native American, Mediterranean, East European, Ashkenazi Jewish, Sub-Saharan African, Asian and several other definitive ethnic groups.

 “The test doesn’t tell you how much of that ancestry you have,” Yates added. “It only tells you if you have it, even if it is a minor line.” The panel also reports whether you have a given ethnic heritage from one parent or both.

To obtain the 18 Marker Ethnic Panel you must first order or submit results from a DNA Fingerprint Test. The core test is a comprehensive analysis of all your ancestral lines and gives you matches to populations and countries around the world where you have accumulations of ancestry. It sells for $250.00. Combined with the new 18 Marker Ethnic Panel, the test is called DNA Fingerprint Plus and costs $300.00.

Order online at dnaconsultants.com or call toll free 1-888-806-2588.

For more information, maps and sample report, visit DNA Consultants’ product page for the DNA Fingerprint Plus at:

http://dnaconsultants.com/_product_60282/DNA_Fingerprint_Plus.

DNA Consultants’ complete and total ancestry analysis is based on human prehistory but detects recent ethnic contributions to your DNA.

Donald Yates discovered

new DNA markers in 2009.

NATIVE AMERICAN I

NATIVE AMERICAN II (Hispanic)

EUROPEAN I ( Mediterranean )

EUROPEAN II

EASTERN EUROPEAN I

EASTERN EUROPEAN II

ASHKENAZI JEWISH I

ASHKENAZI JEWISH II

ASHKENAZI JEWISH III

TATAR/KHAZAR

ASIAN I

ASIAN II

SUB-SAHARAN  AFRICAN I

SUB-SAHARAN AFRICAN II

SUB-SAHARAN AFRICAN III

SUB-SAHARAN AFRICAN IV

AUSTRALOID/SOUTHEAST ASIAN 

FINNIC/URALIC

Ethnic admixture markers included in the DNA Fingerprint Plus 18 Marker Ethnic Panel range from Native American to Sub-Saharan African.

Press Release dated April 7, 2010

DNA Consultants

Home of the DNA Fingerprint Test

26438 N. 42nd Way

Phoenix, AZ 85050

Tel. (480) 292-9820

Website:  www.dnaconsultants.com

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VIEWPOINT: Personalized Genomic Information

Wednesday, February 03, 2010

Preparing for the Future of Genetic Medicine

Alan E. Guttmacher et al.

Nature Reviews Genetics 11, 161-65 (February 2010)

Four experts with different insights into the field of genomic medicine answer questions about the prospects for using this type of information. The issues range from scientific to ethical and logistical.

 

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Book Review: The Language of Life by Francis S. Collins

Wednesday, February 03, 2010
Nature 463/298-299 (21 January 2010)

Abdallah S. Daar in reviewing this new book by NIH director Francis Collins maintains that “we have entered the era of rapid, inexpensive genetic testing and genome sequencing” and must simply come to terms with the phenomenon of personal genomics and consumer genetics. In the next decade, he predicts, the cost of sequencing a human genome will drop to a few hundred dollars. The cost for the Human Genome Project was about $3 billion over 13 years.

The Language of Life:  DNA and the Revolution in Personalized Medicine

By Francis S. Collins

Harper/Profile. 2010. 368 pp/288 pp.

$26.99.

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Newest Research Confirms Beachcomber Route to Asia out of Africa

Thursday, December 10, 2009
Other Companies Must Revise Their Human Migration Maps

Since Stephen Oppenheimer's The Real Eve suggested that the main out-of-Africa migration of humans proceeded across the mouth of the Gulf of Suez and around the coasts of Arabia, India and Southeast Asia (the "beachcomber route"), controversy has raged about the origin of Asians, whether they split off from the first out-of-Africa groups, sometimes called macro-haplogroup M, in the north central Asian highlands or the Middle East or elsewhere. A massive project spearheaded by the Chinese has put that question to rest. The 40-institution HUGO Pan-Asian SNP Consortium "strongly concludes the southern route made a more important contribution to East and Southeast Asian populations than the northern route," says Li Jin, a population geneticist at Fudan University in Shanghai, China. Jin was one of the lead authors of a study reported in Science, vol. 326, no. 5959, p. 1470, "SNP Study Supports Southern Migration Route To Asia," by Dennis Normile.

DNA Consultants has always followed Oppenheimer's model of the settlement of Asia, but other companies, including the National Geographic Genographic Project with over 200,000 customers purchasing their product, inform their customers differently. Most human migration maps displayed by DNA companies and the news media show Asians splitting off from Europeans and Native Americans in the northern latitudes of Central Asia and do not depict a southern "beachcomber" route at all.

Newly proven southern migration routes.

In July of this year, DNA Consultants discovered ethnic markers it released in its 18 Marker Ethnic Panel that prove a southern divide and origin for Asian populations as in the new study.

According to the Science report, "Anthropologists, ethnographers, and linguists have long struggled to understand the patchwork-quilt diversity of Asia.  Indonesia alone claims some 300 ethnic groups; the Philippines has 180 native languages and dialects. Where did they all come from?"

So the previously dominant theory of two major waves of migration from the Middle East must now yield to just one initial migration along the coastal route with populations moving north into East Asia from India and Southeast Asia (see map).

The new study is vindication for the Chinese genetics community, which has often been dismissed and rejected by European and American geneticists. Vincent Macaulay, co-author with Martin Richards of the seminal paper followed by most DNA testing companies, " Tracing European founder lineages in the Near Eastern mtDNA pool," (American Journal of Human Genetics, 67, 1251-1276), when asked about the new findings admitted that the southern coastal route now "seems very strong," as quoted in Science.






















Human Migration Map from DNA Consultants' 18 Marker Ethnic Panel.

The study used samples from more than 1900 individuals representing 73 populations and involved 93 researches at 40 institutions in 11 countries and regions in Asia. It was "conceived by Asians in Asia and executed, funded, and completed by an Asian consortium," said Edison Liu, executive director of the Genome Insitute of Singapore. Researchers screened each individual for more than 50,000 SNPs.


Comments

Sarah James commented on 11-Dec-2009 01:51 AM

I seem to recall that the debate about the beachcomber and other possible routes has been knocking around in anthopological circles for a while - at least since the 80s when I was studying anthropology in London. What's wonderful is that the beachcomber route has now been verified, but in the meantime one wonders how many NGGP clients, for example, may believe their ancestral migrations differed, and how widely this scientific breakthrough will be dissemintaed in the public media.

But well done DNA Consultants, and congratulations to the HUGO Pan-Asian SNP Consortium!

Dan commented on 11-Dec-2009 08:30 AM

Makes sense really. What would a regular person do other than follow the warm beach. It seems less likely that a person would go to a cold climate and say "aaahhh this is the place" unless the beach was already taken by someone else.

Nancy Sparks Morrison commented on 11-Dec-2009 03:01 PM

Don,
very interesting research. Makes sense. Explains a lot and glad you were able to realize it before most! :-) Good going!

I intend to do the rest of the DNA next year~ Have loved what you found for me so far!
Nancy

M. Moore commented on 15-Dec-2009 01:43 PM

While I can not extend my knowledge or understanding to the level of Sarah James, I can certainly agree with her comment. Very well written and explained. New discoveries or corrected history?

James R Carney commented on 23-Dec-2009 01:05 PM

This is a very interesting finding. As we have studied the coastal settlements in the south for quite sometime, your research has been fascinating and very plausible with the oral traditions of settlement of the Gulf Coast States in pre American (English Atlantic Coast Settlements). In this New DNA Study Science there is much to learn and most is theory. As students of any science, or academics, we must all keep an open mind and allow for discussion of all possibilities, otherwise we might miss the one great aha Moment. Your openness to research is very refreshing and rewarding.
Keep it up
DJ

Bookmakers commented on 30-Mar-2011 01:01 PM

Hello,I love reading through your blog, I wanted to leave a little comment to support you and wish you a good continuation. Wishing you the best of luck for all your blogging efforts


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Does deCODE's Bankruptcy Signal False Promise of Genetic Medicine?

Sunday, December 06, 2009
Future Shock or Future Letdown?

New York Times reporter and DNA author Nicholas Wade raised an interesting question in his report on the bankruptcy last month of Iceland's deCODE Genetics, which attempted to make it possible for an ordinary consumer to buy the latest applicable information on the connection between their personal genes and their personal disease risk. The article was titled "A Genetics Company Fails, Its Research Too Complex."

In the November 17 edition in the Science and Technology section, Wade wrote:  "The company's demise suggests that the medical promise of the human genome may take much longer to be fulfilled than its sponsors had hoped." But there may be more to the story. "The discovery that major diseases do not have any simple genetic pattern of causation has dealt a serious setback to the gene-hunting field as a whole," he added.

Signs of the deflation of the field of "gene hunting" over the past 10 years since the Human Genome Project was completed and the second phase of the HGP was announced as focusing on the "conquest" of disease are:

  • Discovery that genes are not found in continuous sequences or segments or even on the same chromosome.
  • Realization no DNA can be considered "junk DNA" and even "non-coding" loci have at least place-holder functions and hence their values are not neutral.
  • Greater respect for the role of environment in inheritance, including the nano-environments within the cell where DNA is stored and replicates.
  • Jumping the gun on numerous claims concerning genome-wide association studies in scientific journals like Nature and Science, and subsequent retractions by editors and authors.
  • Ever increasing sample sizes with ever increasing lack of robustness for the data and clarity for conclusions.
  • A push for extending genetic surveys to rare and under-represented populations, with few surprises in the analysis of the implications for medical research or consequent benefit for public health.
  • Diminishing returns on research investment (ROI) on nearly every front.
  • Not a single viable gene therapy product ever introduced.
  • Realization that only very rare genes are discoverable and selection usually takes care of them and extinguishes them over time; hence the bulk of medical research funds goes toward the rarest of cases and not widespread disease such as cancer or diabetes.
Harvard biology professor Richard Lewontin maintained as long ago as the 1960s, and continued to warn even on the eve of the completion of HGP I in 2000, that gene hunting was essentially a scientific fetish with little true power or efficacy. In 1992, he wrote "The Dream of the Human Genome" as a review article in response to The Code of Codes:  Scientific and Social Issues in the Human Genome Project, edited by Daniel J. Kevles and Leroy Hood, and seven other recently published books on the subject of genetics and medicine. The essay was reprinted in Lewontin's own book It Ain't Necessarily So (second edition, New York Review, 2001). 

I think it is time to elevate gene hunting to the danger of something beyond a harmless fetish for the members of a narrow profession or scientific sect. Its waste and failures have taken on the proportions of a national form of folly and collective denial. While huge expense and sensational efforts continue to be thrown away on the molecular biology revolution, the need to renovate our neglected infrastructure and reform political mechanisms goes unanswered. Resources that might be better allocated keep dwindling. The supposedly most advanced society in history turns a blind eye on such relatively easy measures of public health as universal health care and uncontaminated chemical-free food and water supplies. While geneticists continue to cackle about inch-sized strides in their progress toward scaling the distant peaks of genetic medicine we are slipping into the abyss of logical disconnects. 



Comments

naturopathic physician commented on 06-Dec-2009 02:34 PM

The area of personalized genomics for health intervention has not really panned out. For example, the BRCA 1 and BRCA2 genes were hailed with great fanfare a few years ago as causal agents of breast cancer. But the true percentage of BRCA 1 and 2 mutations contributing to breast cancer are between 5 and 10%, leaving an astounding 90-95% of breast cancer due to other environmental factors. It is those factors that bear looking into, not the "faulty" genes.

The available personalized SNP (single nucleotide polymorphism) panels that are available today for use without a physicians input, are leading people into unproven territory as the true associations between these SNPs and the disease they purport to contribute , is not supported by science.


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FOX News Showcases DNA Consultants

Thursday, December 03, 2009
Dr. Yates was interviewed by WBRC reporter Jeh Jeh Pruitt of FOX News Alabama at the company offices in Phoenix on October 22. The report was broadcast on affiliate stations in late November. Watch it on MyFoxAlabama.com.


Comments

M. Moore commented on 15-Dec-2009 01:44 PM

I hope there are many more interviews with DNA Consultants. Kudos and Cheers!


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Iceland's deCODE Defunct

Saturday, November 28, 2009
Icelandic genomics firm goes bankrupt

Nature 462/401 
23 November 2009

In a report by Erika Check Hayden, the journal Nature gloated that the innovative personal genomics company deCODE Genetics went out of business, leaving the disposition of valuable genetic data unclear. "After struggling financially for years, the genomics company deCODE, based in Reykjavik, Iceland, filed for bankruptcy on 16 November," wrote Hayden, who follows the genealogy-and-genetics business beat for Nature. "The question now is whether other companies looking to commercialize genomics will follow the same path." 

DNAPrint of Sarasota, Fla., went down that path last February without even an obit in scientific journals.

But according to Kari Stefansson, deCODE's CEO, the fate of the data never was in play since it belonged to individuals who had their DNA tested at their own expense with the service lab of deCODE. The lab, Islensk Erfdagreining, continues to operate today "under the same data and privacy protections as ever, rooted in the Icelandic community and within a tried and tested regulatory environment," wrote Stefansson in a comment on the online report by Nature. 

Such an accidentally-on-purpose misunderstanding is more than sloppy science journalism or bad science. It reveals the fundamental hostility of academic geneticists and related disciplines to commercializing or even popularizing DNA. Geneticists should stop thinking they are doing God's work. They should give up the illusion that the great generality of humankind can only understand, profit from and benefit from their work if they, the scientific intelligentsia, condescend to allow it and specify the conditions and goals of its use. 

Those on the payrolls of governments and public institutions have received so much money they think now they can be governors -- governors of the applications of their research.
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Interview with Donald Yates on Blog Talk Radio

Saturday, November 07, 2009
Listen to a broadcast about "anomalous DNA" in the Cherokee by principal investigator Donald N. Yates on Blog Talk Radio from October 29. Host, Rick Ozman of the Oopa Loopa Cafe. Length:  2 hours.
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Officious or Official Regulation?

Thursday, October 22, 2009
Council of Europe adopts protocol on genetic testing for health purposes

In a report so-titled by Laurence Lwoff in the European Journal of Human Genetics (2009) 17, 1374–1377, first published online in July, it was noted that the Council of Europe has weighed in on one of the most controversial areas of DNA testing, whole-genome sequencing and SNP testing to find genetic predisposition to disease for individual customers. Recent editorials in Nature have called for similar measures in the United States, which is home to 23&me and other companies offering such services.

So far, no regulatory proposals have been aimed at genetic ancestry testing, only medical and health-related screening. One of the warnings often raised in the public discussion on genetic testing for health purposes, however, is that results may confuse and unnecessarily alarm consumers--a criticism that could apply equally to ancestry services.  Another is that commercial research scientists and business operators may jump the gun with findings and peddle bad science, although critics admit that the state of knowledge on nearly every topic of interest to geneticists and medical researchers is in a constant state of flux. A finding about a gene for Alzheimer's will be trumpeted in the pages of a major journal one week only to be updated or withdrawn in the next. 
 
This being the case, one wonders when discoveries will ever be fit to be commercialized or made available to the public. Should science only serve scientists?

We have always maintained that the would-be regulators underestimate moderately educated people's ability to understand emerging science. They overestimate commercial companies' disregard for professional practices and responsible communications. Most of the measures under discussion will have the effect of denying people access to valuable information. Regulation will also hamper growth in a direct-to-the-consumer business with unimaginable promise for society at large. A home paternity test purchased at the corner drugstore may make all the difference in the life of a family. Discovery of varied ancestry through a DNA test can be an important factor in furthering a consumer's interest in other peoples and countries, in history, and ultimately in tolerance of others. DNA testing can help bring peace of mind but it can also help bring peace in the world. 

Many, if not most, of the innovative contributions to society by science have come from non-specialists. The scientific establishment is not oriented toward practical applications of knowledge. The Croatian inventor and engineer Nikola Tesla dropped out of college and never received any formal training. Driven entirely by his natural aptitude for learning, he patented some of the most important contributions to the birth of commercial electricity, including alternating  current (AC) electric power systems and the AC motor. His inventions helped usher in the Second Industrial Revolution. So far from being overpowered by the profit motive, he died penniless at the age of 86 in 1943. No government program or university gave him any support or assistance. Whatever else the Council of Europe deliberated about, we hope they were not cynical or self-important enough to discount the possibility there may be many more popular scientists like Tesla in Europe's future. Science and technology are increasingly becoming a way of life for millions of people around the world who do not happen to have an advanced degree. It is a positive sign that consumers are so eager to take responsibility for their own health they will use the latest innovations from genomics to gain knowledge and control. Scientists should be glad they have such an impact. They should not squander the respect they enjoy in our eyes with pedantic discussions about fixing something that is not broken.  

Isolated populations as treasure troves in genetic epidemiology:  the case of the Basques

Paolo Garagnani et al. (2009) in European Journal of Human Genetics 17: 1490-1494.

The Basques living on the western border between Spain and France are a unique population. "Basques" often comes up as a match in people's DNA Fingerprint results, often because (as is widely believed, at least) a people resembling Basques helped repopulate the British Isles after the last Ice Age. But Basques are not an isolate. This article proves they blend gradually into their closest neighboring populations in Spain and France so they are not a candidate population, as say the Finns are, for the study of disease associations. "Basques do not show the genetic properties expected in population isolates," according to the authors. On the contrary, as many previous studies suggest, the Basques have so much diversity among themselves they were probably the source of population diffusions in prehistory, not a backwater trap for inbreeding.
  
Comments

Anonymous commented on 22-Oct-2009 11:28 PM

This is most perplexing and sounds medieval. Does the Council of Europe think we are all children? Are they truly concerned that their citizens may become confused and alarmed? What planet are they living on currently? I suppose they are unaware (or have forgotten) that Darwin had a background in religion (how alarming). This is 2009 and the world is an alarming place. One gets rather used to it though after a number of years. There must be some other reason than this for their suggested protocol. Something truly alarming.


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