Long-read sequence assembly of the gorilla genome.
Long-read sequence assembly of the gorilla genome.
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DOI：
10.1126/science.aae0344
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发表时间：
2016-04-01
期刊：
影响因子：
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通讯作者：
Eichler EE
中科院分区：
文献类型：
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作者：
Gordon D;Huddleston J;Chaisson MJ;Hill CM;Kronenberg ZN;Munson KM;Malig M;Raja A;Fiddes I;Hillier LW;Dunn C;Baker C;Armstrong J;Diekhans M;Paten B;Shendure J;Wilson RK;Haussler D;Chin CS;Eichler EE
基因组的准确测序和组装是研究遗传变异的关键第一步。我们使用单分子、实时测序技术和串图从头组装算法生成了高质量的大猩猩基因组组装。与以前发布的组件相比，新的组件将邻接性提高了两到三个数量级，恢复了87%的缺失参考外显子和不完整的基因模型。尽管大的、高同一性的片段重复区域在很大程度上仍未解决，但这种全面的组装为大猩猩基因组中的遗传多样性、结构变异、基因丢失和重复结构的表示提供了新的生物学见解。该方法为哺乳动物基因组的常规组装提供了一条前进的道路，其水平接近于目前人类基因组的质量。
Accurate sequence and assembly of genomes is a critical first step for studies of genetic variation. We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm. The new assembly improves contiguity by two to three orders of magnitude with respect to previously released assemblies, recovering 87% of missing reference exons and incomplete gene models. Although regions of large, high-identity segmental duplications remain largely unresolved, this comprehensive assembly provides new biological insight into genetic diversity, structural variation, gene loss, and representation of repeat structures within the gorilla genome. The approach provides a path forward for the routine assembly of mammalian genomes at a level approaching that of the current quality of the human genome.