Question: What Is The Ratio Of Heterozygous Vs. Homozygous In An Individual?
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gravatar for lyz10302012
7.1 years ago by
lyz10302012360
China
lyz10302012360 wrote:

Can anyone tell me what is the ratio of heterozygous SNPs/INDELs/SVs vs. homozygous SNPs/INDELs/SVs in an individual?

variant • 6.8k views
ADD COMMENTlink modified 4.6 years ago by Shab86270 • written 7.1 years ago by lyz10302012360
1
gravatar for jackuser1979
7.1 years ago by
jackuser1979880
US
jackuser1979880 wrote:

You can refer Seqanswers for more information.

ADD COMMENTlink written 7.1 years ago by jackuser1979880

He has asked a different question. Still thanks a lot for that informative post.

ADD REPLYlink written 7.1 years ago by Ashutosh Pandey12k
1
gravatar for Shab86
4.6 years ago by
Shab86270
Helsinki
Shab86270 wrote:

Usually, the ratio of Het/Hom is expected to be 2:1. As homozygous cases would be either due to mendelian transmission due to inbreeding like effects in a small, finite population or due to some founder effects, so the expected homozygous cases are quite lower. This ratio is, however, true only when the reference panel and the sample you are analysing come from the same population, and the population structure is not admixed. For admixed cases, the ratio obviously lowers than 2:1.

For more: 1. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551921/ 2. http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000160 (Beware, this paper used low coverage and hence sampling errors could be present.

ADD COMMENTlink modified 4.6 years ago • written 4.6 years ago by Shab86270
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