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Database for Parkinson Disease Mutations and Rare Variants

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Annual rept. 1 Jul 2014-30 Jun 2015

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Massive parallel sequencing MPS allows for high-throughput detection of rare variants. However, for Parkinson Disease PD, the available variant databases are incomplete, dont assess impact or are not equipped to deal with MPS data. We will create a user-friendly Variant Database of Parkinson Disease VarDoPa by combining all information available on PD sequence variants, from literature, publically available MPS datasets and datasets from collaborators. Variants are ranked in three levels genetic and functional evidence from literature, evidence from in-silico analyses and placed in one of six ranking scores indicating impact to PD based on the strength of evidence found. Currently, the variants and in-silico analyses data of the Miami Udall Center whole exome sequencing are available through the demo version of the VarDoPa website. Scripts for high-throughput analyses and database upload have been developed. Variant extraction from literature for the known PD genes and in-silico analyses thereof have been completed and will be uploaded next allowing for implementation of the ranking score algorithm. We will add in literature data on candidate genes and additional MPS datasets obtained through public databases and the PD Genetics Sequencing Consortium. All data will be available through VarDoPa allowing for easy sharing of summary data and quick evaluation of relevance of the identified sequence variants.

Subject Categories:

  • Information Science
  • Anatomy and Physiology
  • Medicine and Medical Research
  • Biomedical Instrumentation and Bioengineering

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