LESSON 9: atDNA Matches
HIR
What are atDNA matches anyway? When we have matching DNA what does that really mean? Simply, matches are individuals whose segments, stretches of DNA, match us along a given chromosome. These matches are where we have a half match, otherwise referred to as a Half Identical Region (HIR, pronounced “her”), where for every SNP or base pair at least one of the two alleles matches one of our match’s alleles for the length of the matching segment. An allele is simply the “A,” “T,” “C,” or “G.” (Review Lesson 5 if you are confused.) Here is a very short part of a segment on Chromosome 16 showing the pair of alleles for each SNP:
In this example John and Mary share a HIR and John and Pete share a HIR but Mary and Pete do not, because in the highlighted SNPs they are not even half identical. (In reality a shared segment would include hundreds if not thousands of SNPs.) In this simplified example “John and Mary” AND “John and Pete” will share a common ancestor but it won’t be the same common ancestor because Mary and Pete do not match. We have essentially phased the data (determined the two sides: mom and dad). John and Mary in our example are cousins: they have a shared ancestor on John’s maternal side and John and Pete share a common ancestor on John’s paternal side. Keeping track of who matches whom on which segments is a process called chromosome mapping. See Lesson 11 for more on Chromosome mapping.
IBD
A segment is considered “Identical By Descent” or “IBD” when the length either in cM or base pairs is long enough to denote that two individuals are “likely” to be descended from a common ancestor from whom they each inherited the same segment. When comparing two individuals who share a common grandparent (first cousins) the matching segments will only represent one side of the segment (one allele in each pair). The shared grandparent (let’s say maternal) represents the shared side, and the other half of the segment is inherited from one of the paternal grandparents (and is not shared).
Each of the major DNA companies have different criteria for determining matches. This is why you may have a match at one company and not have a match with the same person at another. Each company tries to include the highest level of true matches while excluding many false matches. This is based on a statistical analysis and somewhat of a cost benefit ratio (the benefit of including false matches versus the risk of losing real matches).
IBS
Pseudo matches are called “Identical by State” (IBS). These are segments that are NOT from a common ancestor but just happen to be a HIR by random chance or because they represent a very old geographical shared ancestry. The smaller the segment the more likely this is to be true. The corollary is still worth noting that 40-60% of these small matches will be IBD “Identical by Descent” and thereby TRUE matches.
In reality the vast majority of genetic genealogy is based on statistics. Statistics is a major source of the misunderstandings and frustrations for beginning genetic genealogists. When you are dealing with thousands of ancestors or thousands of matches some of them are going to fall into the tail ends of the familiar “bell curve.” So in spite of the fact that the vast majority of say brother to sister matches are going to fall at the 49% average shared DNA level, there will be ones that share 40% and some that share nearly 60%—unusual but not impossible. So whenever looking at DNA remember my “unusual but not impossible” maxim. Sometimes a match is a match and sometimes it isn’t. Statistical predictions are the roadways on which most of us travel. But every now and then people go off-road and take a detour. In spite of the science, that’s as precise as we get. The more transactions (DNA exchanges) or generations we look at the more extreme the ranges become.
STATISTICS
In reality the vast majority of genetic genealogy is based on statistics. Statistics is a major source of the misunderstandings and frustrations for beginning genetic genealogists. When you are dealing with thousands of ancestors or thousands of matches some of them are going to fall into the tail ends of the familiar “bell curve.” So in spite of the fact that the vast majority of say brother to sister matches are going to fall at the 49% average shared DNA level, there will be ones that share 40% and some that share nearly 60%—unusual but not impossible. So whenever looking at DNA remember my “unusual but not impossible” maxim. Sometimes a match is a match and sometimes it isn’t. Statistical predictions are the roadways on which most of us travel. But every now and then people go off-road and take a detour. In spite of the science, that’s as precise as we get. The more transactions (DNA exchanges) or generations we look at the more extreme the ranges become.
Paddy Waldron states: “On average and in theory, an unbiased coin toss produces a head 50% of the time and a tail 50% of the time. In a single trial just now, my coin produced a tail (i.e. 100% of my sample of size 1 resulted in tails). Similarly, on average and in theory, a pair of first cousins share 12.5% of their DNA. In your trial (also a sample of size 1), an observation of exactly 12.50000% is about as likely as the coin landing balanced on its edge. The single observation will be somewhere close to the average. A lot of those commenting above seem not to be distinguishing between the average outcome of many random experiments and the actual outcome of one single random experiment. Inheritance of autosomal DNA is just a random experiment, as recombination occurs randomly along the 22 autosomal chromosomes. A large sample (say two families of 10 children all testing, giving 10×10=100 first cousin matches) will produce a sample average much closer to the theoretical average than the samples of size 1 which are typical in genetic genealogy.”
Steve Mount states “The probability that fourth cousins share at least one IBD [identical by descent] segment is 77%, and the expected length of this segment is 10 cM.” Now consider the next step. There is a 50% chance that that one shared segment will not be transmitted at all, but a 90% chance that if it is transmitted it will be just as big as it was (the same 10 cM.)“
Each company has its advantages and disadvantages. And in many circumstances a combination of all three is the best choice for those serious minded genetic genealogists who want to take full advantage of what each has to offer. Ancestry’s simplicity and pseudo phasing and attached trees probably has the best chance of making genealogical connections. Power users may insist on “seeing” the matching segments and being able to do Chromosome Mapping. Some will like the value at 23andme and discount pricing for multiple kits ordered at the same time. Still others will like the chromosome matching tool at FTDNA since you can combine atDNA with YDNA or mtDNA in one place.
HOW MUCH DNA DO YOU INHERIT?
Adapted from Tim Jantzen (Average estimates—the actual amounts vary broadly)
parent contributes ca 3546 cMs
grandparent contributes ca 1773 cMs
great-grandparent contributes ca 886 cMs
2nd great grandparent contributes ca 443 cMs
3rd great grandparent contributes ca 222 cMs
4th great grandparent contributes ca 110 cMs
5th great grandparent contributes ca 56 cMs
6th great grandparent contributes ca 28 cMs
7th great grandparent contributes ca 14 cMs
8th great grandparent contributes ca 7 cMs
LESSON 10
ADDITIONAL RESOURCES
My Shared cM for your cheat cheat file
The Limits of Predicting Relationships Using DNA from the DNA Geek (My favorite chart prediction chart)
Shared cM Project by Blaine Bettinger (print out chart for Cheat Sheet File)
Shared cM Project Blaine Bettinger by Roberta Estes
FTDNA FAQ Great charts and resources for your “Cheat Sheet File”
Autosomal DNA Testing 101: What Now by Roberta Estes
DNA Portraits: Second Cousins by Jim Owston. Nice discussion of actual stats on cousin-ship
Investigating Small Segments of DNA with HIR search by CeCe Moore
Why Are My Predicted Cousin Relationships Wrong? by Roberta Estes
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