Article
Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.
Bioinformatics (Oxford, England) - 15 Aug 2018
Butkiewicz Mariusz, Blue Elizabeth E, Leung Yuk Yee, Jian Xueqiu, Marcora Edoardo, Renton Alan E, Kuzma Amanda, Wang Li-San, Koboldt Daniel C, Haines Jonathan L, Bush William S
Abstract excerpt
Motivation: Annotation of genomic variants is an increasingly important and complex part of the analysis of sequence-based genomic analyses. Computational predictions of variant function are routinely incorporated into gene-based analyses of rare-variants, though to date most studies use limited information for assessing variant function that is often agnostic of the disease being studied. Results: In this work,...
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