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Identifying the causes and consequences of assembly gaps using a multiplatform genome assembly of a bird‐of‐paradise
Authors:Valentina Peona  Mozes P K Blom  Luohao Xu  Reto Burri  Shawn Sullivan  Ignas Bunikis  Ivan Liachko  Tri Haryoko  Knud A Jnsson  Qi Zhou  Martin Irestedt  Alexander Suh
Abstract:Genome assemblies are currently being produced at an impressive rate by consortia and individual laboratories. The low costs and increasing efficiency of sequencing technologies now enable assembling genomes at unprecedented quality and contiguity. However, the difficulty in assembling repeat‐rich and GC‐rich regions (genomic “dark matter”) limits insights into the evolution of genome structure and regulatory networks. Here, we compare the efficiency of currently available sequencing technologies (short/linked/long reads and proximity ligation maps) and combinations thereof in assembling genomic dark matter. By adopting different de novo assembly strategies, we compare individual draft assemblies to a curated multiplatform reference assembly and identify the genomic features that cause gaps within each assembly. We show that a multiplatform assembly implementing long‐read, linked‐read and proximity sequencing technologies performs best at recovering transposable elements, multicopy MHC genes, GC‐rich microchromosomes and the repeat‐rich W chromosome. Telomere‐to‐telomere assemblies are not a reality yet for most organisms, but by leveraging technology choice it is now possible to minimize genome assembly gaps for downstream analysis. We provide a roadmap to tailor sequencing projects for optimized completeness of both the coding and noncoding parts of nonmodel genomes.
Keywords:chromosome‐level assembly  GC content  genome assembly  Hi‐C  long reads  satellite repeat  transposable element
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