Question: Create a gold standard
0
gravatar for deniselavezzari
6 months ago by
deniselavezzari0 wrote:

Any suggestion to create a gold standard for an individual using all exomes/genome sequencing available?

genome • 298 views
ADD COMMENTlink modified 6 months ago • written 6 months ago by deniselavezzari0
2

Please read [ Please read before posting a question ] -- How To Ask A Good Question and then consider editing your question. If the question fits into a single sentence you probably did not add enough information.

ADD REPLYlink modified 6 months ago • written 6 months ago by ATpoint30k
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gravatar for Istvan Albert
6 months ago by
Istvan Albert ♦♦ 82k
University Park, USA
Istvan Albert ♦♦ 82k wrote:

Here is a relevant publication: Is it time to change the reference genome?

In a nutshell, my takeaway is that "gold standard" is not the right nomenclature. We should be thinking about a consensus sequence where every base is a major allele.

ADD COMMENTlink modified 6 months ago • written 6 months ago by Istvan Albert ♦♦ 82k

This article is very interesting, but what I would like to do is to create a Vcf gold standard from the same individual for which I have the genome and many exomes done with different kit and platform. I want to create it in order to use it for variant calling software comparison. Is there any article for that? Thank you

ADD REPLYlink written 6 months ago by deniselavezzari0
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