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bioRxiv · 10.1101/2020.06.24.169680

Liftoff: an accurate gene annotation mapping tool

Shumate, A.·Salzberg, S.
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Abstract

Improvements in DNA sequencing technology and computational methods have led to a substantial increase in the creation of high-quality genome assemblies of many species. To understand the biology of these genomes, annotation of gene features and other functional elements is essential; however for most species, only the reference genome is well-annotated. One strategy to annotate new or improved genome assemblies is to map or lift over the genes from a previously-annotated reference genome. Here we describe Liftoff, a new genome annotation lift-over tool capable of mapping genes between two assemblies of the same or closely-related species. Liftoff aligns genes from a reference genome to a target genome and finds the mapping that maximizes sequence identity while preserving the structure of each exon, transcript, and gene. We show that Liftoff can accurately map 99.9% of genes between two versions of the human reference genome with an average sequence identity >99.9%. We also show that Liftoff can map genes across species by successfully lifting over 98.4% of human protein-coding genes to a chimpanzee genome assembly with 98.7% sequence identity. AvailabilityThe source code for Liftoff is available at https://github.com/agshumate/Liftoff

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Shumate, A., Salzberg, S.. 2020-06-26. Liftoff: an accurate gene annotation mapping tool. https://doi.org/10.1101/2020.06.24.169680

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