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Scientific studies

From ISOGG Wiki

The birth of genetic genealogy began with the scientific studies published in peer-reviewed journals. The mother of these studies is "Mitochrondrial DNA and Human Evolution" by Rebecca L. Cann, Mark Stoneking, and Allan C. Wilson, published in 1987. It was the first published population genetics study and sparked the revolution to bring us where we are today.


Why would I want to read a scientific paper?

Scientific studies provide further reading and data to learn about your ancestral origins. Example: The Azores Islands were colonized by the Portuguese in the 1400s. Thanks to surviving and preserved Catholic Church registries, many Azoreans can trace their heritage to the beginning of colonization, but not beyond. By comparing Azorean Y-chromosome DNA results to those on mainland Portugal as published in "Micro-Phylogeographic and Demographic History of Portuguese Male Lineages" by S. Beleza, et al. (Need Microsoft Excel or Open Office to view spreadsheet data) genetic links to regions of origin may be found.


Where can I find published studies?

Use keywords such as i.e. "mitochondrial haplogroup K" or "Hungarian Y-chromosome" or variations to search Pubmed.[1] Try using all the variations you can think of to search. Also, read through the abstracts as occasionally you may have a hit on a study regarding an animal Y-chromosome, or mitochondria of a plant.

Sometimes, Pubmed will have the full study available online, but more often than not, it will only contain the abstract. Copy and paste the title of the study into Google search engine and look for a result that has a link ending in ".pdf" and this will likely be a full copy of the paper. Most papers are available online one to two years after publication. Additionally, you might also try searching Google Scholar, but most of the hits you receive with Google, will also be found in Google Scholar.

There are several sites that provide downloads for a fee, but these can be rather expensive so you might try your local university library. If this is not an option, try subscribing and posting your paper request to Rootsweb's GENEALOGY-DNA list as someone may already have a copy of the paper.

Where can I browse published studies?

Y-chromosome studies may be browsed by haplogroup in ISOGG's YSNP Tree. Of special interest to genetic genealogists, The Journal of Genetic Genealogy (JoGG) publishes articles directly related to genetic genealogy.

The Anthrogenica Forum has a dedicated thread for the announcement of new DNA papers.

Newly published scientific studies are often linked in the genetic genealogy mailing lists and in the ISOGG Facebook group.

Using key search terms by browsing Google Scholar


How do I read a scientific study?

This answer depends upon you. For some, the technical jargon of a scientific study may be easy to understand, while for others, it may be a struggle. Some advice for those for whom it is a struggle; read through the paper multiple times, as the information may eventually begin to be absorbed like osmosis. Skip reading the parts you do not understand or that are not relevant to what knowledge you are trying to gain. For example, although not really necessary for you to absorb the anti-contamination methods employed, it is important for scientists to include it, but not important for most to retain that information, so skip it. Practice reading an easy-to-understand study first, like "Mitochondrial DNA Analysis of the Presumptive Remains of Jesse James". Another suggestion for those having difficulty with scientific papers is to read the Abstract and the Results/Conclusion, then try the rest. Readers may also find the Journal of Genetic Genealogy an easier read in addition to being personally beneficial for their genetic genealogy studies.

The anthropologist Jennifer Raff has an excellent blog post on How to read and understand a scientific paper: a guide for non-scientists (Violent Metaphors blog, 25 August 2013) which we recommend reading.


The following articles provide guidance on interpreting the validity of the results presented in a scientific paper:


The more scientific studies you read and accumulate, the more you will find the need to organize them for later reference. Following is a compilation of free and for-a-fee organizational tools.


  • citeulike - FREE

Mac OS

  • BibDesk
  • Endnote - $
  • iPapers - $
  • JabRef - Bibliography reference manager - FREE
  • Papers - $
  • Zotero - (Firefox browser only) - FREE


JabRef - Bibliography reference manager - FREE Endnote - $ Zotero - FREE

Further reading

See also


  1. PubMed is a service of the U.S. National Library of Medicine that includes over 17 million citations from MEDLINE and other life science journals for biomedical articles back to the 1950s. PubMed includes links to full text articles and other related resources.