Article
High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE.
Bioinformatics (Oxford, England) - 15 May 2017
Majoros William H, Campbell Michael S, Holt Carson, DeNardo Erin K, Ware Doreen, Allen Andrew S, Yandell Mark, Reddy Timothy E
Abstract excerpt
MOTIVATION: The accurate interpretation of genetic variants is critical for characterizing genotype-phenotype associations. Because the effects of genetic variants can depend strongly on their local genomic context, accurate genome annotations are essential. Furthermore, as some variants have the potential to disrupt or alter gene structure, variant interpretation efforts stand to gain from the use of...
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