How Do DNA Segments Get Smaller?

Many genetic genealogists, myself included, often talk about DNA segments getting “broken up” or “broken down” as they are passed from one generation to the next. But this language can be misleading, since DNA isn’t really “broken up” into pieces when it passed down; instead, a few pieces are traded between nonsister chromosomes in a process called RECOMBINATION.

Genetic recombination is a process of crossover between chromosomes during MEIOSIS (meiosis = a very specialized cell division that creates eggs and sperm for reproduction). Very early in meiosis, the cells duplicate the chromosomes. Normally, every cell has 23 pairs of chromosomes, for a total of 46 chromosomes. However, in the first step of meiosis, the chromosomes are duplicated to result in a total of 92 chromosomes. There are 4 copies of chromosome 1 (2 copies of the chromosome you got from your mother, and 2 copies of the chromosome you got from your father). There are 4 copies of chromosome 2, and so on.

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Small Matching Segments – Examining Hypotheses

Last week I published “Small Matching Segments – Friend or Foe?” to join in the community’s conversation about the use of “small” segments of DNA, referring to segments 5 cM and smaller (although keep in mind that the term “small,” without a more specific definition, will mean different things to different people).

The question that the community has been struggling with is whether small segments of DNA can be used as genealogical evidence, and if so, how they can be used.

As I wrote in my post, a significant percentage of small segments are false positives, with the number at least 33% and likely much higher. In my examination and in the Durand paper I discuss, a false positive is defined as a small segment that is not shared between a child and at least one of the parents.

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Small Matching Segments – Friend or Foe?

There has been a great deal of conversation in the genetic genealogy community over the past couple of weeks about the use of “small” segments of matching DNA. Typically, the term “small” refers to segments of 5 cM and smaller, although some people include segments of 7 cM or even 10 cM and smaller in the definition.

The question, essentially, is whether small segments of DNA can be used as genealogical evidence, and if so, how they can be used.

While it may seem at first that all shared segments of DNA could constitute genealogical evidence, unfortunately some small segments are IBS, creating “false positive” matches for reasons other than recent ancestry. These segments sometimes match because of lack of phasing, phasing errors, or a variety of other reasons. One thing, however, is clear: there is no debate in the genetic genealogy community that many small segments are false positive matches. There IS debate, however, regarding the rate of false positive matches, and what that means for the use of small segments as genealogical evidence.

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The Effect of Phasing on Reducing False Distant Matches (Or, Phasing a Parent Using GEDmatch)

Genealogical autosomal DNA evidence relies on segments of DNA shared between two or more individuals. When they are true matching segments, they provide information about shared ancestry. One problem that genealogists are currently facing is the inability to decipher between “real” or “true” matching segments and “false” segments.

I won’t get too much into all the different terminology of “real” versus “false” here, because it isn’t important and takes away from the more important discussion. Genealogists, like patent attorneys, can be their own lexicographer, just so long as they are understood by the reader by providing a good definition. So here are my definitions for this post (and I typically use these elsewhere):

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The Danger of Distant Matches

We know that small segments shared between two individuals can be problematic (see Small Matching Segments – Friend or Foe?), whether the two individuals are closely related or distantly related (or not related at all, as we’ll see). I call small segments (which I usually classify as 5 cM or less) as POISON because it is currently impossible to decipher between which are real segments and which are not.

In the following analysis, I use the wonderful new Match-O-Match tool at DNAGedcom to compare my and my parents’ match lists from AncestryDNA. The Match-O-Match tool is a powerful spreadsheet analysis tool developed by Don Worth. It is available to DNAGedcom subscribers as part of the DNAGedcom Client. For more, see page 10 of the PDF HERE. Thank you Don for this great new tool!

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The DNA Era of Genealogy

When does DNA prove a relationship? When is a triangulation group sufficiently large enough to prove descent from an ancestral couple? When is a shared DNA segment large enough to prove someone is your first (or second/third/fourth, etc.) cousin? At what point does the DNA prove that I am descended from Samuel Snell? When does the DNA prove that you’ve found your great-grandmother’s biological parents?

NEVER.

And this is, perhaps, one of the greatest misconceptions in the post-DNA era of genealogy.

What is Proof?

Genealogy is the study of lives and relationships. Accordingly, genealogists spend much of their time identifying, hypothesizing, supporting, and sometimes rejecting, relationships.

Unless you have direct knowledge of a relationship (and even sometimes when you do), you identify relationships using evidence that you’ve gathered from multiple different sources (including DNA, census, land, tax, vital, and many other types of records).

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Visual Phasing: An Example (Part 5 of 5)

Five-Part Series on Visual Phasing:

In “Visual Phasing: An Example (Part 1),” we identified and labeled all of the recombination points in the three siblings, Susan, Brooke, and Felix. Then, in Part 2 of the series, we used the identified and labeled recombination points to assign segments of DNA to the four grandparents (the blue grandparent and grey grandparent pair, and the purple grandparent and green grandparent pair). In Part 3 of the series, we used cousin matching to identify the grandparental source of the chromosomal segments. And finally, in Part 4 of the series, we characterized my paternal chromosome.

After Part 3, we had the following for Brooke, Susan, and Felix:

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Now that we have this information, let’s see if we can use that to explore new matches with Brooke, Susan, and Felix.

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GUEST POST – What a Difference a Phase Makes

The following is a guest post by Ann Turner, founder of the of the GENEALOGY-DNA mailing list at RootsWeb and co-author (with Megan Smolenyak) of “Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree.” Thank you Ann for this terrific post!

Genetic genealogists use autosomal DNA testing to locate people who share some DNA, enough to point to a relationship in a genealogical time frame. We’re not impressed by accidental matches that occur simply because all humans share 99.9% of their DNA. We want to be confident that the shared DNA segment is Identical by Descent (IBD) from a particular common ancestor, one who lived some number of generations in the past.

Two practical difficulties stand in the way of definitive confirmation. One is that our pedigrees are not complete, and we cannot test every link in the chain to prove that the segment traveled down the pathway we’ve identified through the paper trail. Indeed, as more data accumulates we frequently discover that a match we attributed to one ancestor must have come through an entirely different line.

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Finding Genetic Cousins – Separating Fact from Fiction

AncestryDNAShort Summary: Before the end of the year, AncestryDNA plans to update our match lists using a new algorithm that reduces the number of false positive matches. For the first time, matching DNA segments will be characterized as IBS (i.e., a false positive) based on something other than simply segment length.

AncestryDNA Day

Last Monday, October 6th, I and six other members of the genetic genealogy community attended a ‘Bloggers Day’ hosted by AncestryDNA at the San Francisco headquarters of Ancestry.com. Two other members of the group have already written about the event:

While at ‘Bloggers Day’ we discussed many issues including the Y-DNA and mtDNA databases originally scheduled for destruction, upcoming changes to AncestryDNA’s matching algorithm (much more below), and other upcoming changes to the AncestryDNA about which you will hopefully soon hear much more.

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TGG Interview Series VI – Ann Turner

Ann Turner has been a member of the genetic genealogy community since 2000, and during that time she has made great contributions to field (as will become obvious from her interview). According to her brief biography at the Journal of Genetic Genealogy:

Ann Turner is the founder of the GENEALOGY-DNA mailing list at RootsWeb and the co-author (with Megan Smolenyak) of “Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree.” She received her undergraduate degree in biology in 1964 and her M.D. from Stanford University in 1970. In recent years, she developed software for neuropsychological testing and wrote utility programs for the PAF genealogy program. One of these utilities provided a way to split out all people in a database who were related via their mitochondrial DNA, six years before mtDNA tests were commercially available. The inspiration for this feature came from the (then) forward-looking predictions of Dr. Thomas Roderick, now associate editor of JoGG.

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