Tag Archive | IBS

When is a DNA segment match a real match? IBD or IBS or IBC?

The current technology for personal genome testing cannot tell you which of the two chromosomes, maternal or paternal, in a pair that an allele comes from. It can tell you that there is an AG at a specific position and a CT at the next position but not whether the A came from your mother or your father. This leads to much confusion about DNA segment matching.


Kitty and Shipley; siblings sharing 47% of their DNA

The matches that these testing companies find are for stretches of DNA that are half identical regions (HIRs). This is due to the fact that a relative who shares a DNA segment from a common ancestor with you will match you along the chromosome you got from the parent who is descended from that ancestor. Thus your new relative will match you for half the alleles in those positions. Only a sibling will share fully identical regions of DNA. Click here for a page that has a picture of the DNA I share with my brother Shipley.

For example, if my Dad gave me AAAAAAAAAAA and my Mom gave me CCCCCCCCCCC then I would seem to match absolutely everyone on that segment because every position has both an A and a C. So an ACACCAACCAC or a CCAACCCACA looks like a match, but only those with an  AAAAAAAAAAA or a  CCCCCCCCCC would be real matches. This is simplistic and the segment runs used for matching are much longer than this to try to avoid that sort of false matching. Also note than when your testing company shows an AC it is really an AT and a CG but just one of the known pairing is shown for brevity.

The term for a real match is IBD, which is an abbreviation for Identical By Descent. The term IBS means Identical by State which would apply to any false match. So in our example, the CCAACCCACAA match would be considered IBS.

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Finding Distant Relatives with Autosomal DNA Testing

Maybe you tested your DNA to prove or disprove a genealogical theory. Or maybe you tested to check on your health risks or carrier status. But now you see all these possible 3rd to 5th cousins in your family finder or relative finder lists and you wonder if you are related and if you can find that relationship. Perhaps you contacted a few and had almost no responses.

DNARelativesSampleSYes you are probably related, but without both of you having a good paper trail you would be most lucky to actually find that relationship. It is likely to be further back than suggested if your ancestors were at all endogamous. Just living in the same location for a few hundred years can lead to much inadvertent intermarrying and more common DNA than degree of relationship would expect. So autosomal DNA testing is no genealogical shortcut. Some of the people you contacted already know this, so if they saw no common surnames or places on your profile they may have lost interest.

So be prepared before contacting those likely 3rd to 5th cousins.

  1. Have an easily readable pedigree chart in both PDF and online format (GEDmatch can do the latter, more on GEDmatch later)
  2. Another good tool is a list of about 12 generations of ancestors by place name. Much easier for a possible relative to scan.
  3. Do some reading on the basics. A nice short article on autosomal DNA is this one on about.com and it has some more links.
  4. Try to talk some close relatives into testing so you have more data to work with
  5. Last but not least, make a decision on how much time you want to devote to this project … warning it can be addictive

If you want to do the minimum, then scan the localities and surnames of these possible cousins and contact the ones with surnames or place names in common with you. Indicate in your message that this is the reason for contact. Include the URL for your pedigree or family site and offer to send the PDF files. Include your email address if you are using the 23andme messaging system. The more directed the contact, the more likely you will hear back. I recently went through and cancelled some of my early invitations and send new improved ones on the lines above and got four new shares.

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