This is a test version of Biostars. For the public version, visit https://www.biostars.org.
Heterozygosity by individual

How to compute heterozygosity for each individual?

Currently I use:

plink --bfile file --hardy --out file --noweb

but I need .hwe files for each individual separately in a dataset of hundreds of individuals.

plink hardy individual
• 12,085 views • link
updated by Johan Zicola Johan Zicola • written by Li • Li

3 answers

--hardy requires many individuals to judge deviation from Hardy-Weinberg equilibrium. Single-individual .hwe files will not be useful.

If you are trying to perform quality control on samples, consider plotting top principal components (computed with EIGENSOFT 6, or plink --pca) and removing extreme outliers.

• 1 views • link
written by chrchang523 chrchang523

I need to compute heterozygosity per individual from genotype data. Not for quality control.

• 1 views • link
written by Li • Li

Thanks. Two problems:

  1. --het computes observed and expected autosomal homozygous genotype counts for each sample. However, I need heterozygosity for the X chromosome too (separately). --chr 23 --het gives zero o(hom) and e(hom). My sample is females only.

  2. --het gives an observed heterozygosity of 40% for my example individual, while if I calculate the average o(het) of autosomal snips of the same individual from a .hwe file, o(het) is 30%. For expected heterozygosity the numbers are 36% vs 16%. Thus, the two methods yield very different answers, although if I understand correctly, they should measure the same thing.

As a context: the goal is to compare heterozygosity of X and autosomes between groups, and in order to do a t-test, I need X and autosomal het per individual. I already have average X and autosomal het per group.

• 1 views • link
written by Li • Li

It's a dirty hack, but if your .bim file has numeric chromosome codes, you can force the X chromosome to be treated like an autosome by specifying a species with more chromosomes (e.g. "--dog").

• 1 views • link
written by chrchang523 chrchang523

That works, but I still need to compute this using --hardy too, per individual. Creating a text file with one person, and using --keep myfile.txt is not possible because of the high number of individuals.

• 1 views • link
written by Li • Li

I need to compute heterozygosity per individual from genotype data. Not for quality control.

• 0 views • link
written by Li • Li

Please use ADD COMMENT when responding to an existing post. SUBMIT ANSWER should only be used for new answer for original question.

• 1 views • link
written by GenoMax GenoMax

VCFtools has the function --het such as vcftools --vcf input.vcf --het --out output.het

--het

Calculates a measure of heterozygosity on a per-individual basis. Specfically, the inbreeding coefficient, F, is estimated for each individual using a method of moments. The resulting file has the suffix ".het".

Check the full manual: https://vcftools.github.io/man_latest.html

Check this post if you have difficulty to interpret the results: Is the heterozygosity flag (--het) in vcftools calculate observed and expected heterozygosity?

• 0 views • link
written by Johan Zicola Johan Zicola

Log in to answer this question.

More posts like this