ClinVar / Genetic Testing Registry Data Exploration
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?