A hybrid approach for de novo human genome sequence assembly and phasing.
A hybrid approach for de novo human genome sequence assembly and phasing.
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DOI：
10.1038/nmeth.3865
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发表时间：
2016-07
期刊：
影响因子：
48
通讯作者：
Kwok PY
中科院分区：
文献类型：
--
作者：
Mostovoy Y;Levy-Sakin M;Lam J;Lam ET;Hastie AR;Marks P;Lee J;Chu C;Lin C;Džakula Ž;Cao H;Schlebusch SA;Giorda K;Schnall-Levin M;Wall JD;Kwok PY
Despite tremendous progress in genome sequencing, the basic goal of producing phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe a new approach to perform de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics Linked-Read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.
