Using Integrative Genomic Viewer (IGV) to Inspect for Genomic Heterozygosity

Guide to using this helpful genetics tool

Julian Willett, MD, PhD
CodeX

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Photo by National Cancer Institute on Unsplash

There are many valuable tools for a research scientist in genetics. One such tool is the Integrative Genomics Viewer. This program has several functions useful for someone looking at sequencing data. I will be going over a focused function for one seeking to grab select data quickly.

Homozygous or Heterozygous?

Heterozygosity has implications on physical traits and the strength of a harmful effect. Inspecting for this is fortunately relatively easy. After loading a genome file, zoom into your desired locus by entering the locus into the bar at the top of the screen:

Next, zoom out using the zoom bar at the top right (seen in the above image) to where you can see the different reads:

Non-reference SNPs are indicated by non-grey colorings, such as the blue lines and green lines. Homozygous would be characterized by having the same color at a given site, such as green for all reads on the left-most SNP. Heterozygous could be indicated by mixed colors, like one read…

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Julian Willett, MD, PhD
CodeX
Writer for

Loving husband. Physician scientist who enjoys spreading his knowledge and experiences with the world whether related to medicine, science, or his hobbies.