METHODS AND SYSTEMS FOR DESIGNING GENE PANELS
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United States of America Patent
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Issued Date -
Dec 14, 2023
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Jun 7, 2023
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Jun 1, 2016
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Abstract
A system and method of selecting genes for a gene panel, includes retrieving gene-disease associations of genes associated with diseases at a given level in the disease hierarchy from a disease association database. The disease association database stores disease information, gene information, phenotype information, associations between diseases in the disease hierarchy, gene-disease associations and strength parameters related to the gene-disease associations. For each gene associated with the diseases at the given level, the strength parameters are weighted and combined to determine a rank score for the each gene. The genes are ranked based on the rank scores to provide ranked gene information. The ranked gene information is linked with diseases at the higher levels of the disease hierarchy based on hierarchical relationships. The ranked gene information for gene-disease associations can be used to select genes for a gene panel design.
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