September 22, 2019  |  

Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation.

Authors: Fiddes, Ian T and Armstrong, Joel and Diekhans, Mark and Nachtweide, Stefanie and Kronenberg, Zev N and Underwood, Jason G and Gordon, David and Earl, Dent and Keane, Thomas and Eichler, Evan E and Haussler, David and Stanke, Mario and Paten, Benedict

The recent introductions of low-cost, long-read, and read-cloud sequencing technologies coupled with intense efforts to develop efficient algorithms have made affordable, high-quality de novo sequence assembly a realistic proposition. The result is an explosion of new, ultracontiguous genome assemblies. To compare these genomes, we need robust methods for genome annotation. We describe the fully open source Comparative Annotation Toolkit (CAT), which provides a flexible way to simultaneously annotate entire clades and identify orthology relationships. We show that CAT can be used to improve annotations on the rat genome, annotate the great apes, annotate a diverse set of mammals, and annotate personal, diploid human genomes. We demonstrate the resulting discovery of novel genes, isoforms, and structural variants-even in genomes as well studied as rat and the great apes-and how these annotations improve cross-species RNA expression experiments.© 2018 Fiddes et al.; Published by Cold Spring Harbor Laboratory Press.

Journal: Genome research
DOI: 10.1101/gr.233460.117
Year: 2018

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