Database Aims

Aims

1. Creation of a ranking score representing potential impact of the variant to disease.

This ranking score is based on three evidence levels:

a. Genetic evidence; e.g. population frequency, number of reports in PD patients, segregation analyses
b. In-silico evidence; e.g. variant specific annotation algorithm results (e.g. PolyPhen2 and MutPredSplice for missense variants, RegulomeDB and GWAVA for non-coding variants, Human Splice Finder for splice variants)
c. Functional evidence; any information extracted from literature assessing effect of the variant on relevant biological processes

Variants would need support from all levels to classify as a high impact factor (Table below).



2. Facilitate sharing of data and simplify potential collaborative efforts

In this database we only need summary data (carrier counts versus genotyped counts) per variant. We will not be including individual level data, preventing potential issues about sharing due to IRB concerns.
Additionally, each data set is linked to the pipeline details and information on the research group who generated the data allowing for end users to recontact the PI of the original dataset for potential follow-up studies or discussion.

Suggestions

This database is flexible. We will strive to keep the annotation and literature extractions up-to-date and add in new annotation algorithms as they become available.

Suggestions and comments are welcome at: vardopa@miami.edu