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

ABSTRACT:

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 overest

SUBMITTER: Ko BJ 

PROVIDER: S-EPMC9516828 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature