Journal
NATURE BIOTECHNOLOGY
Volume 33, Issue 6, Pages 617-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/nbt.3200
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Funding
- State Key Development Program for Basic Research of China-973 Program [2011CB809202]
- Shenzhen Municipal Government of China [JC201005260191A]
- International Science and Technology Cooperation Program of Shenzhen [GJHZ20130417140835564]
- Tianjin Municipal Science and Technology special funds for Enterprise Development [14ZXLJSY00320]
- Alberta Innovates Technology Futures
- Lundbeck Foundation [R151-2013-14439] Funding Source: researchfish
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The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.
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