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        Resequencing of the Col1A1 gene of Oryctolagus cuniculus identifies splicing errors and single nucleotide polymorphisms

        James R. Gilbert,Gwen M. Taylor,Joseph E. Losee,Mark P. Mooney,Gregory M. Cooper 한국유전학회 2017 Genes & Genomics Vol.39 No.5

        Next generation sequencing technologies have accelerated the rate at which whole genome sequencing (WGS) data is acquired. The sheer volume of data generated by WGS requires computational annotation to define potential coding regions and chromosomal features. The accuracy of genomic annotation is thus limited by the power of the computational algorithm and the sequence coverage provided by the raw data. Sequencing of the New Zealand White (NZW) rabbit has been performed to a 7× depth of coverage, leaving large gaps in coverage and potential errors within the draft assembly. In the present study, we have resequenced the collagen type I, alpha 1 (Col1A1) gene of Oryctolagus cuniculus (n = 8). We have characterized the full length cDNA, identified splicing errors within the reference sequence, and identified single nucleotide polymorphisms within the gene. These data underscore the need for a higher resolution assembly of the rabbit genome to advance research in this important large animal model.

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