Widespread false gene gains caused by duplication errors in genome assemblies.

Journal Article (Journal Article)

BACKGROUND: False duplications in genome assemblies lead to false biological conclusions. We quantified false duplications in popularly used previous genome assemblies for platypus, zebra finch, and Anna's Hummingbird, and their new counterparts of the same species generated by the Vertebrate Genomes Project, of which the Vertebrate Genomes Project pipeline attempted to eliminate false duplications through haplotype phasing and purging. These assemblies are among the first generated by the Vertebrate Genomes Project where there was a prior chromosomal level reference assembly to compare with. RESULTS: Whole genome alignments revealed that 4 to 16% of the sequences are falsely duplicated in the previous assemblies, impacting hundreds to thousands of genes. These lead to overestimated gene family expansions. The main source of the false duplications is heterotype duplications, where the haplotype sequences were relatively more divergent than other parts of the genome leading the assembly algorithms to classify them as separate genes or genomic regions. A minor source is sequencing errors. Ancient ATP nucleotide binding gene families have a higher prevalence of false duplications compared to other gene families. Although present in a smaller proportion, we observe false duplications remaining in the Vertebrate Genomes Project assemblies that can be identified and purged. CONCLUSIONS: This study highlights the need for more advanced assembly methods that better separate haplotypes and sequence errors, and the need for cautious analyses on gene gains.

Full Text

Duke Authors

Cited Authors

  • Ko, BJ; Lee, C; Kim, J; Rhie, A; Yoo, DA; Howe, K; Wood, J; Cho, S; Brown, S; Formenti, G; Jarvis, ED; Kim, H

Published Date

  • September 27, 2022

Published In

Volume / Issue

  • 23 / 1

Start / End Page

  • 205 -

PubMed ID

  • 36167596

Pubmed Central ID

  • PMC9516828

Electronic International Standard Serial Number (EISSN)

  • 1474-760X

Digital Object Identifier (DOI)

  • 10.1186/s13059-022-02764-1


  • eng

Conference Location

  • England