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LiftoffTools: a toolkit for comparing gene annotations mapped between genome assemblies. | LitMetric

LiftoffTools: a toolkit for comparing gene annotations mapped between genome assemblies.

F1000Res

Center for Computational Biology, Whiting School of Engineering, Johns Hopkins University, Baltimore, MD, 21211, USA.

Published: May 2024

AI Article Synopsis

Article Abstract

In 2020 we published Liftoff, which was the first standalone tool specifically designed for transferring gene annotations between genome assemblies of the same or closely related species. While the gene content is expected to be very similar in closely related genomes, the differences may be biologically consequential, and a computational method to extract all gene-related differences should prove useful in the analysis of such genomes. Here we present LiftoffTools, a toolkit to automate the detection and analysis of gene sequence variants, synteny, and gene copy number changes.  We provide a description of the toolkit and an example of its use comparing genes mapped between two human genome assemblies.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11137477PMC
http://dx.doi.org/10.12688/f1000research.124059.2DOI Listing

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