What am I looking for in the Embark raw data?

I am often asked why do I want the Embark raw data and what am I looking for? The short answer is "research and learning". Here is a longer more complete answer.

I originally started my Norwich DNA database project to give me data on which to learn about the new technology of DNA testing. It is always more fun to learn off of data on which one has a real interest, rather than artificial data in a course. I now have genotype data on approximately 275 Norwich. Along the way, I have learned a lot. For example, I can calculate genetic COIs using runs of homozygosity. (This is what Embark calculates.) I have used my database to help a breeder figure out the sire of an "oops" breeding. (Based upon the DNA data of relatives I was able to triangulate and make an estimated guess on the sire, which we confirmed.) Using nearby genotype data, I can predict the value of the UAS risk marker (not very useful since scoping is the gold standard for UAS testing).

My current interests are in comparing DNA hip dysplasia risk markers that are reported in the scientific literature with what is in the Norwich genome. Plus I am interested in phasing the genotype data - determining the maternal and paternal haplotypes (the part that comes from mom and the part from dad). This is useful in predicting genetic COIs of possible matings (Embark does this).

There is also a cleft palate study I am trying to get started for which the genotype DNA data is useful.

Many of the dogs in my DNA database are related. This is good for some projects, less helpful for others.

If an academic researcher wants to use the DNA data I have collected, I will be happy to share with them. However no information about a specific dog will be made public without the permission of the owner.

So there is no specific thing that I am looking for in the Embark raw data. Rather I am using it for "research and learning".

Blair Kelly
shakspernorwich@gmail.com
Last updated 20240824