Would You Like To Have A Reference Sequence - Would It Be A Healthy/Desirable Genome?

Question

[user56]

Assume you would sequence yourself and by some immaculate chance you would have exactly the GRCh37 sequence.

How the reference sequence is constructed ? I assume that with input from more and more Europeands, the European version of the reference sequence should have the most frequent allele in most places.

So what would it mean for your clinical annotation - the reference version of all 30k genes with the "standard" activity and "standard" structure.

So your clinical annotation would be: you will be of "average" health ? No increased risk of anything? A recommended "standard/reference dosing for all drugs?

There is no right answer but I wanted to get some thoughts around it.

Would it be a "desirable/wished for" sequence?

Answer 1

[Istvan Albert]

I believe that the right way to think about the reference genome is as being an approximation that on its own is probably not even viable let alone healthy/desirable.

The value of the reference genome is that it serves as a common baseline against which we can compare other information.

You can find more relevant answers with deeper insights in Are the human reference genome revisions (e.g. GRCh37) still based on the DNA of the original individuals? and Are there multiple human genome reference sequence? as well as How many human genome assemblies are avaliable?

Answer 2

[Zev.Kronenberg]

The Reference Consortium has a very nice blurb on the topic:

http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/