Interpretome

The Interpretome project at Stanford University is a very useful set of tools from an awesome team of graduate students studying bioinformatics and biology.

Here are some recent posts from genetics bloggers about the Interpretome project:

• Blaine Bettinger – Interpretome: New Analysis Software for Autosomal Testing Results

• Daniel MacArthur - Interpretome: new online tools for analysing personal genome data

• Razib Khan – Beyond, the Interpretome!

Here’s a brief guide on getting started with the site:

1. Make sure you’re using the Chrome or Firefox browser (I used Chrome on Snow Leopard).

2. In the upper right hand corner of the screen, click the Choose File button to load your unzipped raw data that you downloaded from 23andMe or Lumigenix.

3. The information will be parsed. The process was very fast for me – only about ten seconds on a cable internet connection.

4. Select your population type from the drop-down menu in the upper right hand corner of the screen.

The tabs on the site give you these options:

• Lookup – you can look up individual SNPs in your genotype file

• Explore – you can see the interpretation of several traits (eQTLs, positive selection, Neaderthal alleles, exceptional longevity, height)

• Clinical – you can profile your risk for a disease and get pharmacogenomic information (Type 2 diabetes, GWAS variants for certain diseases, warfarin dosing, and pharmacogenomic variants)

• Ancestry – you can check similarity compared to members of the Interpretome team, ancestry by principal component analysis, and chromosome painting

Here are some PDFs that show the site in action:

Chromosome Painting

Diabetes Risk

Exceptional Longevity

GWAS Variants

Pharmacogenomics