Proof of Concept PGx Phenotypes

Assessing Variant Impact and Variant Discovery Potential in PGx – PGx Phenotypes


1) Show that we can appreciate variant effect in the EMR and

2) Proof of concept for using EMR data to identify novel functional variants

For Goal 1):

·         Identify known pathological variants (by lit review, in silico analysis, interrogating extant databases)

·         Request specific quantitative trait phenotype data from sites (simple – no algorithm)

In development

CAAD (Carotid Artery Atherosclerosis Disease)

Carotid artert atherosclerosis disease (CAAD) is measured in cases and controls by both structured data, including ICD diagnosis codes, and quantitative measurements of carotid stenosis based on doppler and other imaging technologies.

The phenotype algorithm includes typical eMERGE pseudo code for implementing the structured data components of the algorithm, as well as a portable natural language processing (NLP) system used to extract percent stenosis measurements from imaging reports.

In development