利用单分子测序和局部敏感哈希组装大型基因组。
Assembling large genomes with single-molecule sequencing and locality-sensitive hashing.
机构信息
1] Department of Chemistry and Biochemistry, University of Maryland, College Park, Maryland, USA. [2] Institute for Advanced Computer Studies, University of Maryland, College Park, Maryland, USA. [3] Invincea Labs, Arlington, Virginia, USA.
National Biodefense Analysis and Countermeasures Center, Frederick, Maryland, USA.
出版信息
Nat Biotechnol. 2015 Jun;33(6):623-30. doi: 10.1038/nbt.3238. Epub 2015 May 25.
Long-read, single-molecule real-time (SMRT) sequencing is routinely used to finish microbial genomes, but available assembly methods have not scaled well to larger genomes. We introduce the MinHash Alignment Process (MHAP) for overlapping noisy, long reads using probabilistic, locality-sensitive hashing. Integrating MHAP with the Celera Assembler enabled reference-grade de novo assemblies of Saccharomyces cerevisiae, Arabidopsis thaliana, Drosophila melanogaster and a human hydatidiform mole cell line (CHM1) from SMRT sequencing. The resulting assemblies are highly continuous, include fully resolved chromosome arms and close persistent gaps in these reference genomes. Our assembly of D. melanogaster revealed previously unknown heterochromatic and telomeric transition sequences, and we assembled low-complexity sequences from CHM1 that fill gaps in the human GRCh38 reference. Using MHAP and the Celera Assembler, single-molecule sequencing can produce de novo near-complete eukaryotic assemblies that are 99.99% accurate when compared with available reference genomes.
长读长实时 (SMRT) 测序通常用于完成微生物基因组,但现有的组装方法还不能很好地扩展到更大的基因组。我们引入了 MinHash 对齐过程 (MHAP),用于使用概率、位置敏感哈希处理重叠的嘈杂、长读取。将 MHAP 与 Celera 组装器集成,可对酿酒酵母、拟南芥、黑腹果蝇和人类葡萄胎细胞系 (CHM1) 进行基于参考的从头组装SMRT 测序。得到的组装结果高度连续,包括完全解析的染色体臂和这些参考基因组中紧密的持续缺口。我们对黑腹果蝇的组装揭示了以前未知的异染色质和端粒转换序列,并且我们从 CHM1 组装了低复杂度序列,填补了人类 GRCh38 参考中的缺口。使用 MHAP 和 Celera 组装器,单分子测序可以产生近完整的真核生物组装,与现有参考基因组相比,准确性达到 99.99%。