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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
MDPD: an integrated genetic information resource for Parkinson's disease
Suisheng Tang1, Zhuo Zhang, Gopalakrishnan Kavitha
1Data Mining Department, Institute for Infocomm Research, Agency for Science, Technology and Research (A*STAR) and Department of Neurology, Singapore General Hospital, Singapore. suisheng@i2r.a-star.edu.sg
Abstract:
Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting millions of people. Both environmental and genetic factors play important roles in its causation and development. Genetic analysis has shown that over 100 genes are correlated with the etiology and pathology of PD. However, accessing genetic information in a consistent and fruitful way is not an easy task. The Mutation Database for Parkinson's Disease (MDPD) is designed to fulfill the need for information integration so that users can easily retrieve, inspect and enhance their knowledge on PD. The database contains 2391 entries on 202 genes extracted from 576 publications and manually examined by biomedical researchers. Each genetic substitution and the resulting impact are clearly labelled and linked to its primary reference. Every reported gene has a summary page that provides information on the variation impact, mutation type, the studied population, mutation position and reference collection. In addition, MDPD provides a unique functionality for users to compare the differences on the type of mutations among ethnic groups. As such, we hope that MDPD will serve as a valuable tool to bridge the gap between genetic analysis and clinical practice. MDPD is publicly accessible at http://datam.i2r.a-star.edu.sg/mdpd/.
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