Communications Biology · 2018 · 289 citations · 49 references
Life SciencesBioinformaticsGeneticsEquine ScienceGenome AssemblyGenomicsAnimal GenomicsContig ConstructionDna SequencingLong-read AssemblySequence AssemblyShort-read AssemblyBenchmarking Genome AssembliesReference Genome ConstructionReference Genome CurationReference Sequence CurationReference-based AssemblyScaffold OptimizationShort-read Genome Assembly
Recent advances in genomic sequencing technology and computational assembly methods have allowed scientists to improve reference genome assemblies in terms of contiguity and composition. EquCab2, a reference genome for the domestic horse, was released in 2007. Although of equal or better quality compared to other first-generation Sanger assemblies, it had many of the shortcomings common to them. In 2014, the equine genomics research community began a project to improve the reference sequence for the horse, building upon the solid foundation of EquCab2 and incorporating new short-read data, long-read data, and proximity ligation data. Here, we present EquCab3. The count of non-N bases in the incorporated chromosomes is improved from 2.33 Gb in EquCab2 to 2.41 Gb in EquCab3. Contiguity has also been improved nearly 40-fold with a contig N50 of 4.5 Mb and scaffold contiguity enhanced to where all but one of the 32 chromosomes is comprised of a single scaffold.
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The Sequence Alignment/Map format and SAMtools
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