Tag: Cosgrove DNA Project

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My Experiences in Genetic Genealogy: Part 3 (Limitations with Today’s DNA Testing)

Introduction

In today’s technology-rich society, we often times forget that technology is still imperfect at best. This reality applies to Direct-to-Consumer DNA testing we use for genealogy.  Despite our advancements in DNA testing over the last couple of decades, its underlying technologies are still limited and are continuously evolving.  While many genetic genealogists, especially those who are new to DNA testing, are frustrated with these limitations, there are still ways to work with the results to help inform and advance your genealogy research. Part 3 of this blog series is not meant to scare people away from DNA testing. Its purpose is to help inform your understanding of the current state of DNA testing and to help manage your expectations. The good news is most of the major testing companies are working with their partners in the scientific and technology communities to build better testing equipment. Thus, overtime, many of these limitations will likely be improved upon or outright eliminated.

Here are some of the current limitations that exist with today’s DNA testing

1. Relationship estimates.  As part of your test results, testing companies provide you a list of genetic matches with whom you share DNA.  These genetic matches are people who have also conducted DNA testing with the same company, such as 23andMe or AncestryDNA, or transferred results from one company to another (such as transferring a copy of their AncestryDNA results to Family Tree DNA).  The companies compare your DNA with other customers in their databases.  If you meet their matching thresholds (more on this topic below), then the companies will add you to your matches’ lists and your matches to your list.

Along with the list of genetic matches, the testing companies provide an estimate or prediction of the type of relationship that you have with all of your matches based on the amount of DNA you share with them.  Companies can only provide an estimate of the relationship because it is nearly impossible for companies to state conclusively the exact relationship between two DNA matches for a couple of reasons. 

First, when it comes to autosomal DNA (the type of DNA that AncestryDNA or FTDNA’s Family Finder test), the amount of DNA you share with a match could be indicative for several different types of relationships.  For instance, if you share 25% autosomal DNA with another person, that could indicate either a grandparent-grandchild or aunt/uncle-niece/nephew relationship.  If you share 1% DNA with a match, such an amount could be indicative of around two dozen or more types of relationships (different degrees of cousins essentially).  Y-DNA test results are similar in that companies can only provide a modest estimate of the possible distance two men shared a common paternal ancestor based on the difference (mutations) found in their respective Y-chromosomes.  The estimates for how many generations back the shared paternal ancestor lived can vary significantly.  

Second, DNA testing companies do not know the actual relationships among their customers when testing DNA samples.  They simply see a person’s DNA sample as an individual sample that requires testing.  They are not testing the person’s sample with the view point of “this sample is from X Cosgrove’s first cousin.”  Thus, they do not factor in people’s actual relationships when looking for DNA matches within their databases nor when providing their relationship estimates. Personally, I am absolutely fine with this because I want the objectivity in the reported results based upon the amount of DNA I share with my matches, not on any prior knowledge a company may have about my matches and I.

2. Test results themselves are imperfect. While we have made significant strides in DNA testing technology in recent years, it is still imperfect, especially when analyzing small amounts of DNA shared between two people. There are known false positives in test results, resulting in a company reporting two people as DNA matches when in fact they are not related at all. There are also known instances when a false negative is reported between two people.  A false negative is when the testing company commits an error by either failing to accurately match two genetic relatives with one another or by omitting DNA matches from each other’s match list.  Both false positives and false negatives tend to occur when the shared DNA between the genetic relatives is very low. 

Each company has its own matching threshold that they use to determine when they assess two people to be valid DNA matches with one another. They do this to limit the number of false positives their customers receive. Unfortunately, their efforts to eliminate false positives do result in occasional exclusion of valid DNA matches from your match list. While this frustrates many genetic genealogists, we need to keep in mind that the amount of DNA we share with our excluded matches are relatively small amounts so it is not like companies are omitting parents off of children’s lists or grandchildren off of their grandparents’ lists. You should feel relatively confident that people predicted to be 4th cousins or closer are likely valid genetic relatives, whether or not the predicted or estimated relationships are correct.

Many experts in the field of genetic genealogy suggest that false positives are likely to occur in the 10 centimorgan or lower range among matches (centimorgan is a level of measurement of DNA; 10 centimorgans is a very small amount). Other experts suggest that you should be cautious when analyzing matches that you share as much as 15 centimorgan of DNA. And nearly all experts agree to ignore any matches that you share less than 7 centimorgan of DNA. However, exceptions do exist. I have a couple of distant cousins who I share around 6.5 centimorgan of DNA with who I had documented in my family tree based upon evidence we collected through on our shared genealogy research.  We took our DNA tests a year after I had added them to my family tree. While we appeared on each other’s DNA match lists, the amount of DNA we shared were below most experts’ recommended thresholds. 

Even though I have a couple of valid exceptions to the general rule of ignoring matches below 7-10 cM range, I can state with a high degree of confidence that many of my lower matches are either false positives or so distantly related that it is highly unlikely I will ever be able to prove how we are actually related. 

3. Ethnicity estimates are just that……estimates. The technology does not exist (yet) that can provide a person their exact ethnic breakdown with 100% accuracy. Hence, this is why all of the companies provide ethnic ESTIMATES as part of their autosomal DNA test results packages. Some companies will claim to be more accurate than others, but to me, this is a subjective statement made by those companies for marketing purposes. Since their reference population panels differ from company to company, your ethnicity results will differ if you test with multiple companies. I don’t know of anyone whose estimates are similar from across multiple companies.

It is important to understand that to build their reference population panels, companies had to collect DNA from people who allegedly have deep ancestral roots in those specific areas of the world. Its highly probable that each company used different people to build their own unique reference populations.  For example, 23andMe and AncestryDNA likely used different people to build their reference population for Ireland.  Not only did they recruit different people, they likely recruited people from different parts of Ireland as well.  Thus, the genetic make-up of the people within their respective reference panels are genetically unique and differ enough that your results will also differ between the two companies. 

This becomes critical as many companies attempt to refine the specific geographic locations from which your ancestors originated.  Thus, while 23andMe and Ancestry may both provide estimates on your Irish ethnicity in the same general range as the other (say 23andMe reports 30% and Ancestry reports 50%), they may differ where within Ireland they estimate your ancestral DNA originated based on the composition of their own unique Irish reference panels. In my case, Ancestry reports a significant Ulster DNA signature in my DNA profile whereas 23andMe has suggested I have a more balanced profile from across all of Ireland. In essence, both are actually accurate when you look at where my various Irish family lines originated in Ireland (my paternal grandfather’s Irish lines come from across all parts of Ireland while my paternal grandmother’s lines are mostly Ulster Irish in origins.

4. Our understanding of ethnicity is tainted by today’s world map and population migrations over the centuries. Something that the majority of people overlook is that your ethnicity results are looking REALLY FAR back into the time capsule that your DNA truly is…..over 500 years back in time in fact. There are countless people who have voiced their frustration with their ethnicity results on Facebook forums and blogs. A person may state that their paperwork trail (genealogy speak for research findings) shows they are 100% Irish, but their ethnicity results show 50% Irish, 25% German, and 25% Scandinavian. While there is likely an element of inaccuracy in their ethnicity results as I stated above, what people don’t realize is the real possibility that some of their ancestors may have actually migrated to Ireland long before records were produced and maintained.  Thus, the paperwork trail either no longer exists or never existed that showed their merchant ancestor from Germany decided one day to stay in Dublin as opposed to head back to Germany where he was born and raised.  Or a brief relationship occurred between a transit foreigner with a local person that resulted in a child several months later.  It happened.  A lot.

People have to keep in mind that many of today’s nation-states did not exist 500 years ago……and for those that did, their national boundaries differ today than they did back then. Nationalities didn’t exist in many parts of the world as we know them today. Thus, we tend to look at our ethnicity results through today’s lens as opposed to how the world looked 500+ years ago, which would be more relevant and accurate when analyzing our ethnicity estimates. Wars, famines, epidemics, and economic crises caused millions of people to migrate from their ancestral lands to new lands over the centuries. Plus, people then, as they are today, were curious and adventurous. They may have been traders, adventurers, or soldiers of fortune who fell in love with a new land and decided to stay. All of these events were common in our shared human history, though many genealogists tend to forget about such occurrences and their frequencies, which if they took the time to study the actual history of their ancestral lands, could see a viable explanation in front of them for why their ethnicity results may differ from their “modern” paper trails.

5. Autosomal DNA itself has its limitations. The amount of DNA we inherited from our ancestors decreases by 50% with each passing generation in your tree. For instance, I share 50% of DNA with each of my parents; 25% with each of my grandparents; 12.5% with my great-grandparents, etc. and less than 1% with each of my 5th great-grandparents. I share even less DNA with my distant cousins than I do with the ancestors who we have in common, if I share any DNA with them at all.

As you can see by this brief example, you share less DNA and likely very little to no DNA with distant ancestors the further you go back in your tree. Thus, if you are trying to break through a brick wall involving a set of your 6th or 7th great-grandparents, the odds of you being able to do so by using autosomal DNA test results are low. This limitation is not due to limitations in existing technology; its a limitation due to the biological processes involved in how we humans transmit DNA from parents to children from generation to generation.

Keeping things in perspective

I will leave my readers with a few recommendations to keep in mind to help overcome our known limitations with today’s testing technologies:

  • NEVER make a conclusion on a relationship between two or more people based on your DNA results alone. DNA results provide additional data points that must be used in conjunction with other credible and vetted evidence produced through traditional genealogical research methods. 
  • Recognize that 50% of fourth cousins (cousins who share a pair of 3rd great-grandparents) do not share DNA with one another.  Yes, the actual relationship is not that distant, yet half of fourth cousins will not share DNA with each other.  Having said that, the amount of DNA you could share with a fourth cousin could range from a moderate amount (~100 cM) to very small amounts.  Thus, just because you and a 4th cousin, who you discovered through your genealogy research, do not share DNA does not mean you are not genealogically related or that you made errors in your research.  It just means that you are not genetically related.  Having said that, I would take the time to re-verify your existing research findings and try to find additional evidence to strengthen your conclusion that the two of you are indeed genealogically related.
  • Don’t put too much weight into your ethnicity estimates.  All of the companies periodically update their reference panels in hopes of improving both the accuracy and precision of the ethnicity estimates.  Some people feel the updated results are a better reflection of their known ethnicity while others feel that the newer results are far less accurate than their original results.  Personally, I think there is value in ethnicity results for people who are starting from ground zero, such as adoptees, who may not have any understanding and knowledge about their biological families.  In these cases, the ethnicity results may help the genealogists with little knowledge of their family background to focus their research into certain records collections.  Outside of these cases, I would not invest much time into one’s ethnicity estimate, especially if you have well documented research and comprehensive family histories..
  • Keep in mind that the technology used for DNA testing is constantly evolving for the better.  Some of the limitations that exist today may not exist in 5 to 10 years from now.  Thankfully, many of the companies update their databases and test results and introduce new tools periodically, most of which are free for existing customers. I like to tell people that DNA testing is an investment that continues to generate dividends overtime.  We just need to practice a bit of patience.

Our next blog entry in the series will focus on some of the more common frustrations people experience with DNA testing.

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My Experiences in Genetic Genealogy: Part 1 (Introduction)

Why I Started My Journey in Genetic Genealogy.

I am very excited to pen a blog series on genetic genealogy.   Anyone who has interacted with me knows I am a huge advocate of DNA testing for genealogy.   Personally, I have conducted autosomal DNA testing with 23andMe, Ancestry, and LivingDNA and have uploaded a copy of my Ancestry DNA results to Family Tree DNA (FTDNA) and MyHeritage.  In addition, I have conducted a series of Y-DNA tests with FTDNA to include the Big Y-700 test.   Thus, I have direct experience with what many consider to be the Top 5 Direct to Consumer DNA testing companies for genealogy.

I decided to venture into DNA testing early on during my genealogy research because I was having difficulty researching many of my family lines. Generally speaking, I knew very little information about my paternal and maternal lines beyond my grandparents’ generations with the exception of my maternal grandmother’s family who I knew back to her own parents’ generation.  I was lucky in one sense that most of my immigrant ancestors converged in Massachusetts shortly upon their immigration to the United States.  I was lucky because Massachusetts and its many cities and towns have done an exceptional job recording, maintaining, and storing numerous types of records for centuries, most of which are very relevant for genealogy.

While I made great and somewhat fast progress in researching my family lines back to most of my second great-grandparent generations, it didn’t take long for me to hit some significant brick walls across most of those lines, primarily once I came to the ancestors who immigrated to the United States.  The vast majority of my immigrant ancestors only listed their native countries as their places of birth on various records (their marriage records, their children’s birth and baptism records, census records, etc.).  Only a couple of ancestors listed a specific place of birth, which varied from either a name of county or village in their respective homelands.

In hopes of seeking a breakthrough in my research, I read a number of books, blogs, and research guides on how to locate an immigrant ancestor’s place of origin through various research methods.  None of their recommended techniques advanced my research any further than what I already had; for the most part I had already attempted their techniques prior to reading these sources. I came to terms that my research was temporarily stalled (I am a realist, not a pessimist!) and I needed to try different approaches to break through the brick walls.

I eventually turned to DNA testing to supplement my traditional genealogical research. My hope was to gain additional insights and data that I was not finding through traditional research methods.  As with many genealogists who turn to DNA testing, the best result would be to connect with genetic cousins who shared the specific family lines in which I had my brick walls.  Optimally, I hoped to find cousins who had a treasure trove of records, pictures, and personal knowledge about our shared ancestral roots, which would provide me the essential information I needed to extend my family lines further beyond the generations I already had. Realistically, I braced myself for the possibility I wouldn’t have any relevant matches when I initially opened up my results. 

Why was I prepared NOT to have any relevant matches?  Well, when I first tested with AncestryDNA in January 2015, there were only about 1 million people in its matching database compared to the 15 million + today. Most of the people who tested early on were from the United States and there were not many people from Ireland and mainland Europe who had tested at this point. This was a critical point to know because my research indicated that many of my ancestors did not come from particularly large families and only a handful of their own relatives immigrated to the United States or Canada. Thus, I needed to connect with cousins back in my ancestors’ native lands in order to advance my research, not to a second cousin of a common great grandparent who I already knew was born in Massachusetts. So, the odds were low that other descendants from my family lines, native of my ancestral homelands, would have tested at this early stage.

As expected, I only had a small a handful of matches in the estimated 4th cousin range (none closer) when I opened up my test results…..all of whom were from family lines that were not necessarily the main focus of my research efforts at that time.  Nonetheless, my new cousins were very generous with their time and willingness to share pertinent research findings with me that allowed me to add an additional generation or two of ancestors and numerous lines of descent to my tree.  Unfortunately, I did not have any matches for the family lines that were my main reason for testing.  Those matches would take one to three years to materialize.

Overall, despite the slow progress I originally made with my DNA test results, I am very happy that I decided to do DNA testing. I truly have zero regrets about my decision. My personal experience has been very positive and beneficial to my research efforts.  While my successes did not come as fast as I had originally hoped, DNA testing has contributed directly to several important discoveries in my family research to include:

  • connecting me with genetic cousins who were willing to share their research with me, which in turn allowed me to extend several family lines at least one generation further back than my own research would have likely brought me;
  • providing additional evidence, which coupled with evidence I collected through traditional genealogical research methods, enabled me to break through several brick walls and draw irrefutable conclusions; and
  • giving me insights that allowed me to narrow my research focus to both specific geographic regions and to specific families, which together expedited my discovery of much needed records and other sources of information.

My DNA journey was without its share of frustrations. As I will discuss in greater detail in subsequent postings, most of those frustrations were self-inflicted and easily avoidable if I had taken the time to learn about genetic genealogy before diving blindly into the testing process. Ironically for me, I had to repeat some of these painful lessons learned because making the mistakes once was obviously not enough for me to learn my lessons the first time around. In the end, my mistakes eventually made me both a better practitioner of genetic genealogy and reminded me to be patient with people who are just starting out on their own DNA journeys.   

How the Blog Series is Organized

The blog series will consist of six parts (which includes the one you are currently reading).  I wanted to discuss the topics in each part in bite size, easily understood portions.  The series should be viewed as an introduction to DNA testing for genealogy focused more on the benefits, limitations, frustrations, and issues with DNA testing that people should take into account when deciding whether or not to pursue DNA testing for genealogy.  I will undoubtedly write other blog postings in the future on more advanced topics related to genetic genealogy with focus on our surname study and DNA project. The current series will consist of the following postings:

  • Part 1: Introduction
  • Part 2: The Growth of DNA Testing and Benefits to Genealogy Research
  • Part 3: Understanding Current Limitations with DNA Testing
  • Part 4: Common Frustrations We Experience in Genetic Genealogy
  • Part 5: Issues and Concerns with DNA Testing
  • Part 6: Why a Genealogist May Not Want to Do DNA Testing

Final Thought about DNA Testing’s Place in Genealogy

Many novice genetic genealogists are often unclear exactly what DNA testing can do for their genealogy research. For one, DNA testing IS NOT A REPLACEMENT for traditional genealogical research as some people believe. DNA testing is considered a “tool” or method within genealogy and the results that the tests provide are considered to be on par with other genealogy records you would find during your research, such as a baptism or marriage record. As many seasoned genealogists know, one record by itself is insufficient to meet the strict criteria laid out in the the Genealogical Proof Standard to draw a reasonable and credible conclusion.

For example, as we will discuss in Part 3 (Limitations), testing companies can only provide you with estimates on likely or possible relationships you and a match may be based on the amount of DNA you share with one another. Depending on how much DNA you inherit from a particular family line, a 2nd cousin 1 Removed could share as much DNA as a 3rd or 4th Cousin (as I have experienced myself). Theoretically, grandparents share just as much DNA with their grand-children as uncles and aunts share with their nieces and nephews. How do you determine the type of relationship (grandparent-grandchild, uncle-nephew, or 2nd cousin 1x Reomved – 3rd Cousin) without having other credible information to help draw a reasonable and defendible conclusion on the type of relationship?

As you can see by the examples above, it is impossible to predict with DNA alone on exactly how you and a match are actually related. Additional evidence is required, usually a combination of traditional records and additional DNA evidence, to draw a reasonable and credible conclusion. Without such evidence, it is very easy for a genetic genealogists to make errors on placing DNA matches into their trees, to include placing them in the wrong family lines, which I have seen some genealogists do. Our goal is not simply to build the biggest tree we can, it is to build as accurate a tree we can, regardless of its size.

So as you embark along your own journey with genetic genealogy, keep it at the forefront of your thoughts that your DNA test results are meant to supplement and complement your traditional genealogical research……they are not meant to replace it!

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Welcome!

Welcome to my blog version 2.0. I originally established a blog in February 2018 to complement my work on the Cosgrove Surname Project, a DNA project hosted by Family Tree DNA. Recently, I established a one-name study for the Cosgrove surname at the Guild of One-Name Studies. One of the services and features offered by the Guild is a blog service through Word Press, the same blog site that I used for my earlier blog. Even though the other blog site (Cosgrove Genealogy) is currently “active” until its subscription expires in January 2020, I plan to post all future blogs through the One-Name Study. In addition, I am transferring the previous blogs posted at Cosgrove Genealogy over to this site to avoid readers having to toggle back and forth between sites.

There are several reasons why I started the surname project and the one name study. The reasons have grown and evolved over the last three years.

Reason #1. First, I want to share lessons learned I have collected over my short period of time researching my own Cosgrove family line in hopes of helping fellow genealogists and Cosgrove enthusiasts overcome brick walls in their own genealogical research.  I was shocked with how difficult it was to research my Cosgrove family line.  Since it is an uncommon surname, though not entirely rare, I thought it would be much easier to research than other family lines, mostly due to the expectation that there would be fewer records that I would have to comb through.  Unfortunately, that wasn’t the case.  I quickly learned that brick walls are inevitable and they appear much quicker than we would like.  And of course, like most Irish immigrants, my Cosgrove ancestors listed only “Ireland” as their place of origin on their U.S. records as opposed to a name of a county or townland, which would have simplified my research efforts.   Despite numerous challenges, I used a combination of research techniques and a variety of records collections to break through my brick wall. My first blog series will focus on my lessons learned and research tips that some of you may be able to use to help chip away or even break through your own brick walls.

Reason #2. I want to show fellow genealogists how to use DNA testing to advance their research into their Cosgrove family lines. I have had success using genetic genealogy as a complement to my traditional genealogical research methods.  I have personally tested with AncestryDNA, 23andMe, LivingDNA, and Family Tree DNA in recent years.  While I had immediate success breaking down brick walls in other family lines, my Cosgrove line was a bit more stubborn.  It took over three years of research and targeted DNA testing before I was able to accumulate enough evidence to confidently conclude who my Irish born Cosgrove ancestor was and where he originated from in Ireland.  Based on my personal successes and challenges experienced with DNA testing,  I will use the blog to help you, in layman’s terms, to design a DNA testing strategy and to apply your test results to further advance your genealogical research. I will also provide a personal review of the DNA testing companies in a future blog posting as well.

Reason #3. I hope to promote my Cosgrove Surname Project on Family Tree DNA (FTDNA).  I volunteered to start the Cosgrove Surname Project at FTDNA in April 2016.   FTDNA allows members like myself to organize and manage DNA projects on its site…..for free.  People can join FTDNA either by purchasing a DNA test directly from the site or transferring a copy of an existing DNA test from another company (23andMe, AncestryDNA, etc) to the site.  Once you join FTDNA, there are no subscription fees and you can join as many DNA projects as you like. I will provide a description on the different types of projects that FTDNA hosts and the benefits they provide genealogists in a future blog posting. If you are interested in joining the surname project, please follow this link to join: https://www.familytreedna.com/groups/cosgrove-surname-project/about

I originally created the Cosgrove Surname Project to bring people who have taken a DNA test (Y-DNA and/or autosomal DNA test) together in one location to help connect genetic cousins together.   It was meant to serve as a forum to share information on our respective lines and use both traditional genealogical research findings and our DNA results to try to solve our genealogical puzzles.  We are a young surname project and currently have 46 members as I write this first blog.  Hopefully, we can expand our membership over time.  I also created a complementary Facebook group for the surname project as well.  I found that some people do not desire to take a commercial DNA test, but still want to participate in the surname project.  The Facebook group serves as a forum for people to do so. The surname project on Facebook can be found through the following link: https://www.facebook.com/groups/921428441309363/ .

Reason #4. I have expanded the original purpose of the surname project to include my goal of using our collective Y-DNA results to see if  I can connect males who carry the Cosgrove surname (or one of its surname variants) back to the various Cosgrove Clans that populated Ireland prior to the Norman invasion in 1172.    My research into the Cosgrove surname and the various ancient Irish genealogies suggests that at least 10 – 12 distinct genetic Cosgrove families existed in Ireland between  400-1200 AD (roughly 2-3 distinct Cosgrove clans in each of the four Irish Provinces of Munster, Leinster, Ulster, and Connacht). In recent years, historians, archaeologists, and genealogists have begun to use Y-DNA test results in an attempt to identify the genetic signature of the various ancient Irish clans. Since Y-DNA is passed only through a male’s paternal line coupled with its slow mutation rate, genetic genealogists can use Y-DNA test results as a bread crumb trail to trace a male’s Y-DNA lineage over hundreds and thousands of years.  Some of the Y-DNA mutations also signify a branching point in a male’s paternal line. Since the mutations are passed along through the generations, its highly likely that if two men share those identical mutations, they also share a common paternal ancestor at some point in the past. I hope to refine my research findings into the various Cosgrove clans and use our YDNA results to connect modern Cosgrove lines back to their ancient clan roots.

Reason #5. While my primary focus is on the Irish Cosgrove families, I am aware that there may be an English group of Cosgroves that are genetically distinct from the various Irish Cosgrove families.  Overtime, I hope to expand my research and knowledge to include the English Cosgroves both in the DNA project and with the one-name study. If you are descended from an English Cosgrove family line, please join our surname project and help us expand our knowledge about the English version of the surname’s history!

In closing, I’m welcome the opportunity of helping each of my readers learn about their Cosgrove families and to expand our collective knowledge about the Cosgrove surname! Your participation and feedback is always welcomed!