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2017 ; 18
(1
): 390
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OrthoFiller: utilising data from multiple species to improve the completeness of
genome annotations
#MMPMID28521726
Dunne MP
; Kelly S
BMC Genomics
2017[May]; 18
(1
): 390
PMID28521726
show ga
BACKROUND: Complete and accurate annotation of sequenced genomes is of paramount
importance to their utility and analysis. Differences in gene prediction
pipelines mean that genome annotations for a species can differ considerably in
the quality and quantity of their predicted genes. Furthermore, genes that are
present in genome sequences sometimes fail to be detected by computational gene
prediction methods. Erroneously unannotated genes can lead to oversights and
inaccurate assertions in biological investigations, especially for smaller-scale
genome projects, which rely heavily on computational prediction. RESULTS: Here we
present OrthoFiller, a tool designed to address the problem of finding and adding
such missing genes to genome annotations. OrthoFiller leverages information from
multiple related species to identify those genes whose existence can be verified
through comparison with known gene families, but which have not been predicted.
By simulating missing gene annotations in real sequence datasets from both plants
and fungi we demonstrate the accuracy and utility of OrthoFiller for finding
missing genes and improving genome annotations. Furthermore, we show that
applying OrthoFiller to existing "complete" genome annotations can identify and
correct substantial numbers of erroneously missing genes in these two sets of
species. CONCLUSIONS: We show that significant improvements in the completeness
of genome annotations can be made by leveraging information from multiple
species.