Data Analysis with GWAS and Web Database Development Towards Understanding Pleiotropy and Genetic Relationships Between Neuropsychiatric Disorders
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Zhou, Millie
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Zhou, Millie. 2020. Data Analysis with GWAS and Web Database Development Towards Understanding Pleiotropy and Genetic Relationships Between Neuropsychiatric Disorders. Master's thesis, Harvard Extension School.Abstract
Advances in genome wide association studies (GWAS) are revolutionizing thefield of psychiatric genetics, allowing researchers to examine the genetic basis of mental
illnesses. Several risk loci have been discovered, showing genome-wide risk sharing is
pervasive across many mental disorders. Identification, characterization, and clinical
translation of pleiotropic effects provide fundamental insight into the genetic architecture
of neuropsychiatric disorders. Yet, few data resources are available to facilitate the
systematic investigation of the pleiotropic landscape in common and complex brain
disorders. The upBrainGenomics (Understanding Pleiotropy of Brain Disorders using
Genomics Data) database is dedicated to the investigation of genetic pleiotropy
underlying 20 psychiatric and neurological disorders. Genetic relationships of the
disorders were estimated based on SNP-based genome-wide genetic correlations and
pathway-based genetic similarities. The web interface provides the analysis results using
Heatmap Charts or Network Diagrams, which users can save in multiple file formats.
Locus-specific pleiotropic information is also presented, summarizing genes and
pathways with shared risk effects across 20 brain disorders. The upBrainGenomics
database will enable rapid dissemination of cross-disorder GWAS results to researchers in
the neuropsychiatric genetics field, and facilitate translation of genomic discoveries into
understanding of brain health and precision medicine. The upBrainGenomics can be
accessed at: mybrain.mgh.harvard.edu/.
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