What Is The Ratio Of Heterozygous Vs. Homozygous In An Individual?
2
0
Entering edit mode
10.6 years ago
lyz10302012 ▴ 470

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

variant • 10k views
ADD COMMENT
1
Entering edit mode
10.6 years ago
jackuser1979 ▴ 890

You can refer Seqanswers for more information.

ADD COMMENT
0
Entering edit mode

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

ADD REPLY
1
Entering edit mode
8.1 years ago
Shab86 ▴ 310

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 COMMENT

Login before adding your answer.

Traffic: 4638 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6