Article
Clinical utility of sequence-based genotype compared with that derivable from genotyping arrays.
Journal of the American Medical Informatics Association : JAMIA - 1 Jun 2012
Morgan Alexander A, Chen Rong, Butte Atul Janardhan
Abstract excerpt
OBJECTIVE: We investigated the common-disease relevant information obtained from sequencing compared with that reported from genotyping arrays. MATERIALS AND METHODS: Using 187 publicly available individual human genomes, we constructed genomic disease risk summaries based on 55 common diseases with reported gene-disease associations in the research literature using two different risk models, one based on the...
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