ClinVar / Genetic Testing Registry Data Exploration

03 February 2016 | hacking,science | Tags: , ,

A few months back I decided to do a basic data investigation of how two genomic health related NIH databases — ClinVar (the Clinical Variation Database) and GTR (the Genetic Testing Registry) — relate to each other.

The basic question I wanted to explore was the following:

Of the genetic variants submitted to ClinVar, how well represented in GTR are these gene regions (indicated by gene Symbol in both databases)?

In other words: does the number of industry and research tests known in GTR for a particular gene relate at all to the number of variants that have been submitted by researchers as belonging to that particular gene region?

You can check out the results, process, and code on my blog devoted to ClinVar / GTR data exploration.

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