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Nat Methods. 2016 Jul;13(7):587-90. doi: 10.1038/nmeth.3865. Epub 2016 May 9.

A hybrid approach for de novo human genome sequence assembly and phasing.

Author information

1
Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
2
BioNano Genomics, Inc., San Diego, California, USA.
3
10X Genomics, Inc., Pleasanton, California, USA.
4
Department of Molecular and Cell Biology, University of Cape Town, Cape Town, South Africa.
5
Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
6
Department of Dermatology, University of California, San Francisco, San Francisco, California, USA.

Abstract

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 assembled human genome.

PMID:
27159086
PMCID:
PMC4927370
DOI:
10.1038/nmeth.3865
[Indexed for MEDLINE]
Free PMC Article

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