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Improved haplotype resolution of highly duplicated MHC genes in a long-read genome assembly using MiSeq amplicons.


ABSTRACT: Long-read sequencing offers a great improvement in the assembly of complex genomic regions, such as the major histocompatibility complex (MHC) region, which can contain both tandemly duplicated MHC genes (paralogs) and high repeat content. The MHC genes have expanded in passerine birds, resulting in numerous MHC paralogs, with relatively high sequence similarity, making the assembly of the MHC region challenging even with long-read sequencing. In addition, MHC genes show rather high sequence divergence between alleles, making diploid-aware assemblers incorrectly classify haplotypes from the same locus as sequences originating from different genomic regions. Consequently, the number of MHC paralogs can easily be over- or underestimated in long-read assemblies. We therefore set out to verify

SUBMITTER: Mellinger S 

PROVIDER: S-EPMC10349553 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature