Dudchenko Olga, Batra Sanjit S, Omer Arina D, Nyquist Sarah K, Hoeger Marie, Durand Neva C, Shamim Muhammad S, Machol Ido, Lander Eric S, Aiden Aviva Presser, Aiden Erez Lieberman
The Center for Genome Architecture, Baylor College of Medicine, Houston, TX 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Science. 2017 Apr 7;356(6333):92-95. doi: 10.1126/science.aal3327. Epub 2017 Mar 23.
The Zika outbreak, spread by the mosquito, highlights the need to create high-quality assemblies of large genomes in a rapid and cost-effective way. Here we combine Hi-C data with existing draft assemblies to generate chromosome-length scaffolds. We validate this method by assembling a human genome, de novo, from short reads alone (67× coverage). We then combine our method with draft sequences to create genome assemblies of the mosquito disease vectors and , each consisting of three scaffolds corresponding to the three chromosomes in each species. These assemblies indicate that almost all genomic rearrangements among these species occur within, rather than between, chromosome arms. The genome assembly procedure we describe is fast, inexpensive, and accurate, and can be applied to many species.
由蚊子传播的寨卡疫情凸显了以快速且经济高效的方式构建大型基因组高质量组装的必要性。在此，我们将Hi-C数据与现有的草图组装相结合，以生成染色体长度的支架。我们通过仅从短读长（67倍覆盖度）从头组装人类基因组来验证此方法。然后，我们将我们的方法与草图序列相结合，创建了蚊虫病媒埃及伊蚊和白纹伊蚊的基因组组装，每个组装由对应于每个物种三条染色体的三个支架组成。这些组装表明，这些物种之间几乎所有的基因组重排都发生在染色体臂内，而非染色体臂之间。我们所描述的基因组组装程序快速、廉价且准确，可应用于许多物种。
