A hybrid approach for de novo human genome sequence assembly and phasing.
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ABSTRACT:
SUBMITTER: Mostovoy Y
PROVIDER: S-EPMC4927370 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Publications
A hybrid approach for de novo human genome sequence assembly and phasing.
Mostovoy Yulia Y Levy-Sakin Michal M Lam Jessica J Lam Ernest T ET Hastie Alex R AR Marks Patrick P Lee Joyce J Chu Catherine C Lin Chin C Džakula Željko Ž Cao Han H Schlebusch Stephen A SA Giorda Kristina K Schnall-Levin Michael M Wall Jeffrey D JD Kwok Pui-Yan PY
Nature methods 20160509 7
Despite tremendous progress in genome sequencing, the basic goal of producing a 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 an approach to performing 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 a ...[more]
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